Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33446638C>A | CA363637093 | SYNGAP1,SYNGAP1-AS1 | c.3388C>A (p.Leu1130Met) c.3646C>A (p.Leu1216Met) c.3598C>A (p.Leu1200Met) c.3469C>A (p.Leu1157Met) c.3601C>A (p.Leu1201Met) n.297G>T | |
6 | g.33446638C>G | CA363637096 | SYNGAP1,SYNGAP1-AS1 | c.3388C>G (p.Leu1130Val) c.3646C>G (p.Leu1216Val) c.3598C>G (p.Leu1200Val) c.3469C>G (p.Leu1157Val) c.3601C>G (p.Leu1201Val) n.297G>C | |
6 | g.33446638C>T | CA449839645 | SYNGAP1,SYNGAP1-AS1 | c.3388C>T (p.Leu1130=) c.3646C>T (p.Leu1216=) c.3598C>T (p.Leu1200=) c.3469C>T (p.Leu1157=) c.3601C>T (p.Leu1201=) n.297G>A | |
6 | g.33446639T>A | CA363637099 | SYNGAP1,SYNGAP1-AS1 | c.3389T>A (p.Leu1130Gln) c.3647T>A (p.Leu1216Gln) c.3599T>A (p.Leu1200Gln) c.3470T>A (p.Leu1157Gln) c.3602T>A (p.Leu1201Gln) n.296A>T | |
6 | g.33446639T>C | CA363637100 | SYNGAP1,SYNGAP1-AS1 | c.3389T>C (p.Leu1130Pro) c.3647T>C (p.Leu1216Pro) c.3599T>C (p.Leu1200Pro) c.3470T>C (p.Leu1157Pro) c.3602T>C (p.Leu1201Pro) n.296A>G | |
6 | g.33446639T>G | CA363637103 | SYNGAP1,SYNGAP1-AS1 | c.3389T>G (p.Leu1130Arg) c.3647T>G (p.Leu1216Arg) c.3599T>G (p.Leu1200Arg) c.3470T>G (p.Leu1157Arg) c.3602T>G (p.Leu1201Arg) n.296A>C | |
6 | g.33446640G>A | CA449839646 | SYNGAP1,SYNGAP1-AS1 | c.3390G>A (p.Leu1130=) c.3648G>A (p.Leu1216=) c.3600G>A (p.Leu1200=) c.3471G>A (p.Leu1157=) c.3603G>A (p.Leu1201=) n.295C>T | dbSNP gnomAD v4 |
6 | g.33446640G>C | CA449839647 | SYNGAP1,SYNGAP1-AS1 | c.3390G>C (p.Leu1130=) c.3648G>C (p.Leu1216=) c.3600G>C (p.Leu1200=) c.3471G>C (p.Leu1157=) c.3603G>C (p.Leu1201=) n.295C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33446640G= | CA1620016888 | SYNGAP1,SYNGAP1-AS1 | c.3390G= (p.Leu1130=) c.3648G= (p.Leu1216=) c.3600G= (p.Leu1200=) c.3471G= (p.Leu1157=) c.3603G= (p.Leu1201=) n.295C= | |
6 | g.33446640G>T | CA449839648 | SYNGAP1,SYNGAP1-AS1 | c.3390G>T (p.Leu1130=) c.3648G>T (p.Leu1216=) c.3600G>T (p.Leu1200=) c.3471G>T (p.Leu1157=) c.3603G>T (p.Leu1201=) n.295C>A | |
6 | g.33446641G>A | CA363637106 | SYNGAP1,SYNGAP1-AS1 | c.3391G>A (p.Glu1131Lys) c.3649G>A (p.Glu1217Lys) c.3601G>A (p.Glu1201Lys) c.3472G>A (p.Glu1158Lys) c.3604G>A (p.Glu1202Lys) n.294C>T | |
6 | g.33446641G>C | CA363637108 | SYNGAP1,SYNGAP1-AS1 | c.3391G>C (p.Glu1131Gln) c.3649G>C (p.Glu1217Gln) c.3601G>C (p.Glu1201Gln) c.3472G>C (p.Glu1158Gln) c.3604G>C (p.Glu1202Gln) n.294C>G | |
6 | g.33446641G= | CA1620016891 | SYNGAP1,SYNGAP1-AS1 | c.3391G= (p.Glu1131=) c.3649G= (p.Glu1217=) c.3601G= (p.Glu1201=) c.3472G= (p.Glu1158=) c.3604G= (p.Glu1202=) n.294C= | |
6 | g.33446641G>T | CA363637111 | SYNGAP1,SYNGAP1-AS1 | c.3391G>T (p.Glu1131Ter) c.3649G>T (p.Glu1217Ter) c.3601G>T (p.Glu1201Ter) c.3472G>T (p.Glu1158Ter) c.3604G>T (p.Glu1202Ter) n.294C>A | dbSNP |
6 | g.33446642A= | CA1620016895 | SYNGAP1,SYNGAP1-AS1 | c.3392A= (p.Glu1131=) c.3650A= (p.Glu1217=) c.3602A= (p.Glu1201=) c.3473A= (p.Glu1158=) c.3605A= (p.Glu1202=) n.293T= | |
6 | g.33446642A>C | CA363637114 | SYNGAP1,SYNGAP1-AS1 | c.3392A>C (p.Glu1131Ala) c.3650A>C (p.Glu1217Ala) c.3602A>C (p.Glu1201Ala) c.3473A>C (p.Glu1158Ala) c.3605A>C (p.Glu1202Ala) n.293T>G | |
6 | g.33446642A>G | CA363637116 | SYNGAP1,SYNGAP1-AS1 | c.3392A>G (p.Glu1131Gly) c.3650A>G (p.Glu1217Gly) c.3602A>G (p.Glu1201Gly) c.3473A>G (p.Glu1158Gly) c.3605A>G (p.Glu1202Gly) n.293T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33446642A>T | CA363637118 | SYNGAP1,SYNGAP1-AS1 | c.3392A>T (p.Glu1131Val) c.3650A>T (p.Glu1217Val) c.3602A>T (p.Glu1201Val) c.3473A>T (p.Glu1158Val) c.3605A>T (p.Glu1202Val) n.293T>A | |
6 | g.33446643A>C | CA363637120 | SYNGAP1,SYNGAP1-AS1 | c.3393A>C (p.Glu1131Asp) c.3651A>C (p.Glu1217Asp) c.3603A>C (p.Glu1201Asp) c.3474A>C (p.Glu1158Asp) c.3606A>C (p.Glu1202Asp) n.292T>G | |
6 | g.33446643A>G | CA449839649 | SYNGAP1,SYNGAP1-AS1 | c.3393A>G (p.Glu1131=) c.3651A>G (p.Glu1217=) c.3603A>G (p.Glu1201=) c.3474A>G (p.Glu1158=) c.3606A>G (p.Glu1202=) n.292T>C | |
6 | g.33446643A>T | CA363637123 | SYNGAP1,SYNGAP1-AS1 | c.3393A>T (p.Glu1131Asp) c.3651A>T (p.Glu1217Asp) c.3603A>T (p.Glu1201Asp) c.3474A>T (p.Glu1158Asp) c.3606A>T (p.Glu1202Asp) n.292T>A | |
6 | g.33446644G>A | CA363637129 | SYNGAP1,SYNGAP1-AS1 | c.3394G>A (p.Glu1132Lys) c.3652G>A (p.Glu1218Lys) c.3604G>A (p.Glu1202Lys) c.3475G>A (p.Glu1159Lys) c.3607G>A (p.Glu1203Lys) n.291C>T | |
6 | g.33446644G>C | CA363637130 | SYNGAP1,SYNGAP1-AS1 | c.3394G>C (p.Glu1132Gln) c.3652G>C (p.Glu1218Gln) c.3604G>C (p.Glu1202Gln) c.3475G>C (p.Glu1159Gln) c.3607G>C (p.Glu1203Gln) n.291C>G | |
6 | g.33446644G= | CA1620016899 | SYNGAP1,SYNGAP1-AS1 | c.3394G= (p.Glu1132=) c.3652G= (p.Glu1218=) c.3604G= (p.Glu1202=) c.3475G= (p.Glu1159=) c.3607G= (p.Glu1203=) n.291C= | |
6 | g.33446644G>T | CA363637126 | SYNGAP1,SYNGAP1-AS1 | c.3394G>T (p.Glu1132Ter) c.3652G>T (p.Glu1218Ter) c.3604G>T (p.Glu1202Ter) c.3475G>T (p.Glu1159Ter) c.3607G>T (p.Glu1203Ter) n.291C>A | dbSNP |
6 | g.33446645A= | CA1620016901 | SYNGAP1,SYNGAP1-AS1 | c.3395A= (p.Glu1132=) c.3653A= (p.Glu1218=) c.3605A= (p.Glu1202=) c.3476A= (p.Glu1159=) c.3608A= (p.Glu1203=) n.290T= | |
6 | g.33446645A>C | CA363637133 | SYNGAP1,SYNGAP1-AS1 | c.3395A>C (p.Glu1132Ala) c.3653A>C (p.Glu1218Ala) c.3605A>C (p.Glu1202Ala) c.3476A>C (p.Glu1159Ala) c.3608A>C (p.Glu1203Ala) n.290T>G | |
6 | g.33446645A>G | CA363637135 | SYNGAP1,SYNGAP1-AS1 | c.3395A>G (p.Glu1132Gly) c.3653A>G (p.Glu1218Gly) c.3605A>G (p.Glu1202Gly) c.3476A>G (p.Glu1159Gly) c.3608A>G (p.Glu1203Gly) n.290T>C | |
6 | g.33446645A>T | CA363637138 | SYNGAP1,SYNGAP1-AS1 | c.3395A>T (p.Glu1132Val) c.3653A>T (p.Glu1218Val) c.3605A>T (p.Glu1202Val) c.3476A>T (p.Glu1159Val) c.3608A>T (p.Glu1203Val) n.290T>A | ClinVar dbSNP |
6 | g.33446646G>A | CA449839650 | SYNGAP1,SYNGAP1-AS1 | c.3396G>A (p.Glu1132=) c.3654G>A (p.Glu1218=) c.3606G>A (p.Glu1202=) c.3477G>A (p.Glu1159=) c.3609G>A (p.Glu1203=) n.289C>T | |
6 | g.33446646G>C | CA3759083 | SYNGAP1,SYNGAP1-AS1 | c.3396G>C (p.Glu1132Asp) c.3654G>C (p.Glu1218Asp) c.3606G>C (p.Glu1202Asp) c.3477G>C (p.Glu1159Asp) c.3609G>C (p.Glu1203Asp) n.289C>G | dbSNP ExAC |
6 | g.33446646G= | CA1620016905 | SYNGAP1,SYNGAP1-AS1 | c.3396G= (p.Glu1132=) c.3654G= (p.Glu1218=) c.3606G= (p.Glu1202=) c.3477G= (p.Glu1159=) c.3609G= (p.Glu1203=) n.289C= | |
6 | g.33446646G>T | CA363637141 | SYNGAP1,SYNGAP1-AS1 | c.3396G>T (p.Glu1132Asp) c.3654G>T (p.Glu1218Asp) c.3606G>T (p.Glu1202Asp) c.3477G>T (p.Glu1159Asp) c.3609G>T (p.Glu1203Asp) n.289C>A | |
6 | g.33446647T>A | CA363637142 | SYNGAP1,SYNGAP1-AS1 | c.3397T>A (p.Tyr1133Asn) c.3655T>A (p.Tyr1219Asn) c.3607T>A (p.Tyr1203Asn) c.3478T>A (p.Tyr1160Asn) c.3610T>A (p.Tyr1204Asn) n.288A>T | |
6 | g.33446647T>C | CA363637145 | SYNGAP1,SYNGAP1-AS1 | c.3397T>C (p.Tyr1133His) c.3655T>C (p.Tyr1219His) c.3607T>C (p.Tyr1203His) c.3478T>C (p.Tyr1160His) c.3610T>C (p.Tyr1204His) n.288A>G | ClinVar |
6 | g.33446647T>G | CA363637148 | SYNGAP1,SYNGAP1-AS1 | c.3397T>G (p.Tyr1133Asp) c.3655T>G (p.Tyr1219Asp) c.3607T>G (p.Tyr1203Asp) c.3478T>G (p.Tyr1160Asp) c.3610T>G (p.Tyr1204Asp) n.288A>C | |
6 | g.33446648A>C | CA363637151 | SYNGAP1,SYNGAP1-AS1 | c.3398A>C (p.Tyr1133Ser) c.3656A>C (p.Tyr1219Ser) c.3608A>C (p.Tyr1203Ser) c.3479A>C (p.Tyr1160Ser) c.3611A>C (p.Tyr1204Ser) n.287T>G | |
6 | g.33446648A>G | CA363637153 | SYNGAP1,SYNGAP1-AS1 | c.3398A>G (p.Tyr1133Cys) c.3656A>G (p.Tyr1219Cys) c.3608A>G (p.Tyr1203Cys) c.3479A>G (p.Tyr1160Cys) c.3611A>G (p.Tyr1204Cys) n.287T>C | |
6 | g.33446648A>T | CA363637156 | SYNGAP1,SYNGAP1-AS1 | c.3398A>T (p.Tyr1133Phe) c.3656A>T (p.Tyr1219Phe) c.3608A>T (p.Tyr1203Phe) c.3479A>T (p.Tyr1160Phe) c.3611A>T (p.Tyr1204Phe) n.287T>A | |
6 | g.33446649T>A | CA363637158 | SYNGAP1,SYNGAP1-AS1 | c.3399T>A (p.Tyr1133Ter) c.3657T>A (p.Tyr1219Ter) c.3609T>A (p.Tyr1203Ter) c.3480T>A (p.Tyr1160Ter) c.3612T>A (p.Tyr1204Ter) n.286A>T | |
6 | g.33446649T>C | CA449839651 | SYNGAP1,SYNGAP1-AS1 | c.3399T>C (p.Tyr1133=) c.3657T>C (p.Tyr1219=) c.3609T>C (p.Tyr1203=) c.3480T>C (p.Tyr1160=) c.3612T>C (p.Tyr1204=) n.286A>G | |
6 | g.33446649T>G | CA363637160 | SYNGAP1,SYNGAP1-AS1 | c.3399T>G (p.Tyr1133Ter) c.3657T>G (p.Tyr1219Ter) c.3609T>G (p.Tyr1203Ter) c.3480T>G (p.Tyr1160Ter) c.3612T>G (p.Tyr1204Ter) n.286A>C | |
6 | g.33446649_33446650del | CA2695206230 | SYNGAP1,SYNGAP1-AS1 | c.3399_3400del (p.Tyr1133Ter) c.3657_3658del (p.Tyr1219Ter) c.3609_3610del (p.Tyr1203Ter) c.3480_3481del (p.Tyr1160Ter) c.3612_3613del (p.Tyr1204Ter) n.285_286del | |
6 | g.33446650G>A | CA363637165 | SYNGAP1,SYNGAP1-AS1 | c.3400G>A (p.Glu1134Lys) c.3658G>A (p.Glu1220Lys) c.3610G>A (p.Glu1204Lys) c.3481G>A (p.Glu1161Lys) c.3613G>A (p.Glu1205Lys) n.285C>T | gnomAD v4 |
6 | g.33446650G>C | CA363637162 | SYNGAP1,SYNGAP1-AS1 | c.3400G>C (p.Glu1134Gln) c.3658G>C (p.Glu1220Gln) c.3610G>C (p.Glu1204Gln) c.3481G>C (p.Glu1161Gln) c.3613G>C (p.Glu1205Gln) n.285C>G | |
6 | g.33446650G= | CA1620016908 | SYNGAP1,SYNGAP1-AS1 | c.3400G= (p.Glu1134=) c.3658G= (p.Glu1220=) c.3610G= (p.Glu1204=) c.3481G= (p.Glu1161=) c.3613G= (p.Glu1205=) n.285C= | |
6 | g.33446650G>T | CA363637163 | SYNGAP1,SYNGAP1-AS1 | c.3400G>T (p.Glu1134Ter) c.3658G>T (p.Glu1220Ter) c.3610G>T (p.Glu1204Ter) c.3481G>T (p.Glu1161Ter) c.3613G>T (p.Glu1205Ter) n.285C>A | dbSNP |
6 | g.33446651A>C | CA363637169 | SYNGAP1,SYNGAP1-AS1 | c.3401A>C (p.Glu1134Ala) c.3659A>C (p.Glu1220Ala) c.3611A>C (p.Glu1204Ala) c.3482A>C (p.Glu1161Ala) c.3614A>C (p.Glu1205Ala) n.284T>G | |
6 | g.33446651A>G | CA363637172 | SYNGAP1,SYNGAP1-AS1 | c.3401A>G (p.Glu1134Gly) c.3659A>G (p.Glu1220Gly) c.3611A>G (p.Glu1204Gly) c.3482A>G (p.Glu1161Gly) c.3614A>G (p.Glu1205Gly) n.284T>C | |
6 | g.33446651A>T | CA363637173 | SYNGAP1,SYNGAP1-AS1 | c.3401A>T (p.Glu1134Val) c.3659A>T (p.Glu1220Val) c.3611A>T (p.Glu1204Val) c.3482A>T (p.Glu1161Val) c.3614A>T (p.Glu1205Val) n.284T>A | |
6 | g.33446652G>A | CA449839653 | SYNGAP1,SYNGAP1-AS1 | c.3402G>A (p.Glu1134=) c.3660G>A (p.Glu1220=) c.3612G>A (p.Glu1204=) c.3483G>A (p.Glu1161=) c.3615G>A (p.Glu1205=) n.283C>T | ClinVar dbSNP |
6 | g.33446652G>C | CA363637174 | SYNGAP1,SYNGAP1-AS1 | c.3402G>C (p.Glu1134Asp) c.3660G>C (p.Glu1220Asp) c.3612G>C (p.Glu1204Asp) c.3483G>C (p.Glu1161Asp) c.3615G>C (p.Glu1205Asp) n.283C>G | |
6 | g.33446652G>T | CA363637176 | SYNGAP1,SYNGAP1-AS1 | c.3402G>T (p.Glu1134Asp) c.3660G>T (p.Glu1220Asp) c.3612G>T (p.Glu1204Asp) c.3483G>T (p.Glu1161Asp) c.3615G>T (p.Glu1205Asp) n.283C>A | |
6 | g.33446653C>A | CA449839655 | SYNGAP1,SYNGAP1-AS1 | c.3403C>A (p.Arg1135=) c.3661C>A (p.Arg1221=) c.3613C>A (p.Arg1205=) c.3484C>A (p.Arg1162=) c.3616C>A (p.Arg1206=) n.282G>T | |
6 | g.33446653C>G | CA363637179 | SYNGAP1,SYNGAP1-AS1 | c.3403C>G (p.Arg1135Gly) c.3661C>G (p.Arg1221Gly) c.3613C>G (p.Arg1205Gly) c.3484C>G (p.Arg1162Gly) c.3616C>G (p.Arg1206Gly) n.282G>C | |
6 | g.33446653C>T | CA363637182 | SYNGAP1,SYNGAP1-AS1 | c.3403C>T (p.Arg1135Trp) c.3661C>T (p.Arg1221Trp) c.3613C>T (p.Arg1205Trp) c.3484C>T (p.Arg1162Trp) c.3616C>T (p.Arg1206Trp) n.282G>A | ClinVar dbSNP gnomAD v4 |
6 | g.33446654G>A | CA137075371 | SYNGAP1,SYNGAP1-AS1 | c.3404G>A (p.Arg1135Gln) c.3662G>A (p.Arg1221Gln) c.3614G>A (p.Arg1205Gln) c.3485G>A (p.Arg1162Gln) c.3617G>A (p.Arg1206Gln) n.281C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33446654G>C | CA363637185 | SYNGAP1,SYNGAP1-AS1 | c.3404G>C (p.Arg1135Pro) c.3662G>C (p.Arg1221Pro) c.3614G>C (p.Arg1205Pro) c.3485G>C (p.Arg1162Pro) c.3617G>C (p.Arg1206Pro) n.281C>G | |
6 | g.33446654G= | CA1620016915 | SYNGAP1,SYNGAP1-AS1 | c.3404G= (p.Arg1135=) c.3662G= (p.Arg1221=) c.3614G= (p.Arg1205=) c.3485G= (p.Arg1162=) c.3617G= (p.Arg1206=) n.281C= | |
6 | g.33446654G>T | CA363637188 | SYNGAP1,SYNGAP1-AS1 | c.3404G>T (p.Arg1135Leu) c.3662G>T (p.Arg1221Leu) c.3614G>T (p.Arg1205Leu) c.3485G>T (p.Arg1162Leu) c.3617G>T (p.Arg1206Leu) n.281C>A | |
6 | g.33446655G>A | CA449839657 | SYNGAP1,SYNGAP1-AS1 | c.3405G>A (p.Arg1135=) c.3663G>A (p.Arg1221=) c.3615G>A (p.Arg1205=) c.3486G>A (p.Arg1162=) c.3618G>A (p.Arg1206=) n.280C>T | |
6 | g.33446655G>C | CA449839659 | SYNGAP1,SYNGAP1-AS1 | c.3405G>C (p.Arg1135=) c.3663G>C (p.Arg1221=) c.3615G>C (p.Arg1205=) c.3486G>C (p.Arg1162=) c.3618G>C (p.Arg1206=) n.280C>G | |
6 | g.33446655G>T | CA449839658 | SYNGAP1,SYNGAP1-AS1 | c.3405G>T (p.Arg1135=) c.3663G>T (p.Arg1221=) c.3615G>T (p.Arg1205=) c.3486G>T (p.Arg1162=) c.3618G>T (p.Arg1206=) n.280C>A | |
6 | g.33446656A= | CA1620016920 | SYNGAP1,SYNGAP1-AS1 | c.3406A= (p.Arg1136=) c.3664A= (p.Arg1222=) c.3616A= (p.Arg1206=) c.3487A= (p.Arg1163=) c.3619A= (p.Arg1207=) n.279T= | |
6 | g.33446656A>C | CA449839661 | SYNGAP1,SYNGAP1-AS1 | c.3406A>C (p.Arg1136=) c.3664A>C (p.Arg1222=) c.3616A>C (p.Arg1206=) c.3487A>C (p.Arg1163=) c.3619A>C (p.Arg1207=) n.279T>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33446656A>G | CA363637189 | SYNGAP1,SYNGAP1-AS1 | c.3406A>G (p.Arg1136Gly) c.3664A>G (p.Arg1222Gly) c.3616A>G (p.Arg1206Gly) c.3487A>G (p.Arg1163Gly) c.3619A>G (p.Arg1207Gly) n.279T>C | |
6 | g.33446656A>T | CA363637190 | SYNGAP1,SYNGAP1-AS1 | c.3406A>T (p.Arg1136Trp) c.3664A>T (p.Arg1222Trp) c.3616A>T (p.Arg1206Trp) c.3487A>T (p.Arg1163Trp) c.3619A>T (p.Arg1207Trp) n.279T>A | COSMIC COSMIC |
6 | g.33446657G>A | CA363637191 | SYNGAP1,SYNGAP1-AS1 | c.3407G>A (p.Arg1136Lys) c.3665G>A (p.Arg1222Lys) c.3617G>A (p.Arg1206Lys) c.3488G>A (p.Arg1163Lys) c.3620G>A (p.Arg1207Lys) n.278C>T | |
6 | g.33446657G>C | CA363637193 | SYNGAP1,SYNGAP1-AS1 | c.3407G>C (p.Arg1136Thr) c.3665G>C (p.Arg1222Thr) c.3617G>C (p.Arg1206Thr) c.3488G>C (p.Arg1163Thr) c.3620G>C (p.Arg1207Thr) n.278C>G | |
6 | g.33446657G>T | CA363637192 | SYNGAP1,SYNGAP1-AS1 | c.3407G>T (p.Arg1136Met) c.3665G>T (p.Arg1222Met) c.3617G>T (p.Arg1206Met) c.3488G>T (p.Arg1163Met) c.3620G>T (p.Arg1207Met) n.278C>A | |
6 | g.33446657_33446661dup | CA1139659354 | SYNGAP1,SYNGAP1-AS1 | c.3407_3411dup (p.Leu1138GlyfsTer13) c.3665_3669dup (p.Leu1224GlyfsTer13) c.3617_3621dup (p.Leu1208GlyfsTer13) c.3488_3492dup (p.Leu1165GlyfsTer13) c.3620_3624dup (p.Leu1209GlyfsTer13) n.274_278dup | ClinVar dbSNP |
6 | g.33446658G>A | CA449839662 | SYNGAP1,SYNGAP1-AS1 | c.3408G>A (p.Arg1136=) c.3666G>A (p.Arg1222=) c.3618G>A (p.Arg1206=) c.3489G>A (p.Arg1163=) c.3621G>A (p.Arg1207=) n.277C>T | |
6 | g.33446658G>C | CA363637195 | SYNGAP1,SYNGAP1-AS1 | c.3408G>C (p.Arg1136Ser) c.3666G>C (p.Arg1222Ser) c.3618G>C (p.Arg1206Ser) c.3489G>C (p.Arg1163Ser) c.3621G>C (p.Arg1207Ser) n.277C>G | |
6 | g.33446658G>T | CA363637196 | SYNGAP1,SYNGAP1-AS1 | c.3408G>T (p.Arg1136Ser) c.3666G>T (p.Arg1222Ser) c.3618G>T (p.Arg1206Ser) c.3489G>T (p.Arg1163Ser) c.3621G>T (p.Arg1207Ser) n.277C>A | |
6 | g.33446659C>A | CA363637197 | SYNGAP1,SYNGAP1-AS1 | c.3409C>A (p.Leu1137Met) c.3667C>A (p.Leu1223Met) c.3619C>A (p.Leu1207Met) c.3490C>A (p.Leu1164Met) c.3622C>A (p.Leu1208Met) n.276G>T | dbSNP |
6 | g.33446659C>G | CA363637199 | SYNGAP1,SYNGAP1-AS1 | c.3409C>G (p.Leu1137Val) c.3667C>G (p.Leu1223Val) c.3619C>G (p.Leu1207Val) c.3490C>G (p.Leu1164Val) c.3622C>G (p.Leu1208Val) n.276G>C | |
6 | g.33446659C>T | CA449839663 | SYNGAP1,SYNGAP1-AS1 | c.3409C>T (p.Leu1137=) c.3667C>T (p.Leu1223=) c.3619C>T (p.Leu1207=) c.3490C>T (p.Leu1164=) c.3622C>T (p.Leu1208=) n.276G>A | gnomAD v4 |
6 | g.33446660T>A | CA363637201 | SYNGAP1,SYNGAP1-AS1 | c.3410T>A (p.Leu1137Gln) c.3668T>A (p.Leu1223Gln) c.3620T>A (p.Leu1207Gln) c.3491T>A (p.Leu1164Gln) c.3623T>A (p.Leu1208Gln) n.275A>T | |
6 | g.33446660T>C | CA363637204 | SYNGAP1,SYNGAP1-AS1 | c.3410T>C (p.Leu1137Pro) c.3668T>C (p.Leu1223Pro) c.3620T>C (p.Leu1207Pro) c.3491T>C (p.Leu1164Pro) c.3623T>C (p.Leu1208Pro) n.275A>G | |
6 | g.33446660T>G | CA363637206 | SYNGAP1,SYNGAP1-AS1 | c.3410T>G (p.Leu1137Arg) c.3668T>G (p.Leu1223Arg) c.3620T>G (p.Leu1207Arg) c.3491T>G (p.Leu1164Arg) c.3623T>G (p.Leu1208Arg) n.275A>C | |
6 | g.33446661G>A | CA449839664 | SYNGAP1,SYNGAP1-AS1 | c.3411G>A (p.Leu1137=) c.3669G>A (p.Leu1223=) c.3621G>A (p.Leu1207=) c.3492G>A (p.Leu1164=) c.3624G>A (p.Leu1208=) n.274C>T | |
6 | g.33446661G>C | CA449839665 | SYNGAP1,SYNGAP1-AS1 | c.3411G>C (p.Leu1137=) c.3669G>C (p.Leu1223=) c.3621G>C (p.Leu1207=) c.3492G>C (p.Leu1164=) c.3624G>C (p.Leu1208=) n.274C>G | |
6 | g.33446661G>T | CA449839666 | SYNGAP1,SYNGAP1-AS1 | c.3411G>T (p.Leu1137=) c.3669G>T (p.Leu1223=) c.3621G>T (p.Leu1207=) c.3492G>T (p.Leu1164=) c.3624G>T (p.Leu1208=) n.274C>A | |
6 | g.33446662C>A | CA363637208 | SYNGAP1,SYNGAP1-AS1 | c.3412C>A (p.Leu1138Met) c.3670C>A (p.Leu1224Met) c.3622C>A (p.Leu1208Met) c.3493C>A (p.Leu1165Met) c.3625C>A (p.Leu1209Met) n.273G>T | |
6 | g.33446662C>G | CA363637209 | SYNGAP1,SYNGAP1-AS1 | c.3412C>G (p.Leu1138Val) c.3670C>G (p.Leu1224Val) c.3622C>G (p.Leu1208Val) c.3493C>G (p.Leu1165Val) c.3625C>G (p.Leu1209Val) n.273G>C | |
6 | g.33446662C>T | CA449839667 | SYNGAP1,SYNGAP1-AS1 | c.3412C>T (p.Leu1138=) c.3670C>T (p.Leu1224=) c.3622C>T (p.Leu1208=) c.3493C>T (p.Leu1165=) c.3625C>T (p.Leu1209=) n.273G>A | |
6 | g.33446663T>A | CA363637213 | SYNGAP1,SYNGAP1-AS1 | c.3413T>A (p.Leu1138Gln) c.3671T>A (p.Leu1224Gln) c.3623T>A (p.Leu1208Gln) c.3494T>A (p.Leu1165Gln) c.3626T>A (p.Leu1209Gln) n.272A>T | |
6 | g.33446663T>C | CA363637216 | SYNGAP1,SYNGAP1-AS1 | c.3413T>C (p.Leu1138Pro) c.3671T>C (p.Leu1224Pro) c.3623T>C (p.Leu1208Pro) c.3494T>C (p.Leu1165Pro) c.3626T>C (p.Leu1209Pro) n.272A>G | |
6 | g.33446663T>G | CA363637217 | SYNGAP1,SYNGAP1-AS1 | c.3413T>G (p.Leu1138Arg) c.3671T>G (p.Leu1224Arg) c.3623T>G (p.Leu1208Arg) c.3494T>G (p.Leu1165Arg) c.3626T>G (p.Leu1209Arg) n.272A>C | gnomAD v4 |
6 | g.33446664del | CA2499218233 | SYNGAP1,SYNGAP1-AS1 | c.3414del (p.Ser1139ProfsTer10) c.3672del (p.Ser1225ProfsTer10) c.3624del (p.Ser1209ProfsTer10) c.3495del (p.Ser1166ProfsTer10) c.3627del (p.Ser1210ProfsTer10) n.271del | ClinVar dbSNP |
6 | g.33446664G>A | CA449839668 | SYNGAP1,SYNGAP1-AS1 | c.3414G>A (p.Leu1138=) c.3672G>A (p.Leu1224=) c.3624G>A (p.Leu1208=) c.3495G>A (p.Leu1165=) c.3627G>A (p.Leu1209=) n.271C>T | |
6 | g.33446664G>C | CA449839669 | SYNGAP1,SYNGAP1-AS1 | c.3414G>C (p.Leu1138=) c.3672G>C (p.Leu1224=) c.3624G>C (p.Leu1208=) c.3495G>C (p.Leu1165=) c.3627G>C (p.Leu1209=) n.271C>G | |
6 | g.33446664G>T | CA449839670 | SYNGAP1,SYNGAP1-AS1 | c.3414G>T (p.Leu1138=) c.3672G>T (p.Leu1224=) c.3624G>T (p.Leu1208=) c.3495G>T (p.Leu1165=) c.3627G>T (p.Leu1209=) n.271C>A | |
6 | g.33446665T>A | CA363637220 | SYNGAP1,SYNGAP1-AS1 | c.3415T>A (p.Ser1139Thr) c.3673T>A (p.Ser1225Thr) c.3625T>A (p.Ser1209Thr) c.3496T>A (p.Ser1166Thr) c.3628T>A (p.Ser1210Thr) n.270A>T | |
6 | g.33446665T>C | CA363637222 | SYNGAP1,SYNGAP1-AS1 | c.3415T>C (p.Ser1139Pro) c.3673T>C (p.Ser1225Pro) c.3625T>C (p.Ser1209Pro) c.3496T>C (p.Ser1166Pro) c.3628T>C (p.Ser1210Pro) n.270A>G | |
6 | g.33446665T>G | CA363637226 | SYNGAP1,SYNGAP1-AS1 | c.3415T>G (p.Ser1139Ala) c.3673T>G (p.Ser1225Ala) c.3625T>G (p.Ser1209Ala) c.3496T>G (p.Ser1166Ala) c.3628T>G (p.Ser1210Ala) n.270A>C | |
6 | g.33446666C>A | CA363637236 | SYNGAP1,SYNGAP1-AS1 | c.3416C>A (p.Ser1139Tyr) c.3674C>A (p.Ser1225Tyr) c.3626C>A (p.Ser1209Tyr) c.3497C>A (p.Ser1166Tyr) c.3629C>A (p.Ser1210Tyr) n.269G>T | |
6 | g.33446666C>G | CA363637230 | SYNGAP1,SYNGAP1-AS1 | c.3416C>G (p.Ser1139Cys) c.3674C>G (p.Ser1225Cys) c.3626C>G (p.Ser1209Cys) c.3497C>G (p.Ser1166Cys) c.3629C>G (p.Ser1210Cys) n.269G>C | |
6 | g.33446666C>T | CA363637232 | SYNGAP1,SYNGAP1-AS1 | c.3416C>T (p.Ser1139Phe) c.3674C>T (p.Ser1225Phe) c.3626C>T (p.Ser1209Phe) c.3497C>T (p.Ser1166Phe) c.3629C>T (p.Ser1210Phe) n.269G>A | |
6 | g.33446667C>A | CA449839671 | SYNGAP1,SYNGAP1-AS1 | c.3417C>A (p.Ser1139=) c.3675C>A (p.Ser1225=) c.3627C>A (p.Ser1209=) c.3498C>A (p.Ser1166=) c.3630C>A (p.Ser1210=) n.268G>T | |
6 | g.33446667C= | CA1620016927 | SYNGAP1,SYNGAP1-AS1 | c.3417C= (p.Ser1139=) c.3675C= (p.Ser1225=) c.3627C= (p.Ser1209=) c.3498C= (p.Ser1166=) c.3630C= (p.Ser1210=) n.268G= | |
6 | g.33446667C>G | CA449839672 | SYNGAP1,SYNGAP1-AS1 | c.3417C>G (p.Ser1139=) c.3675C>G (p.Ser1225=) c.3627C>G (p.Ser1209=) c.3498C>G (p.Ser1166=) c.3630C>G (p.Ser1210=) n.268G>C | |
6 | g.33446667C>T | CA449839673 | SYNGAP1,SYNGAP1-AS1 | c.3417C>T (p.Ser1139=) c.3675C>T (p.Ser1225=) c.3627C>T (p.Ser1209=) c.3498C>T (p.Ser1166=) c.3630C>T (p.Ser1210=) n.268G>A | dbSNP gnomAD v4 |
6 | g.33446668C>A | CA363637240 | SYNGAP1,SYNGAP1-AS1 | c.3418C>A (p.Gln1140Lys) c.3676C>A (p.Gln1226Lys) c.3628C>A (p.Gln1210Lys) c.3499C>A (p.Gln1167Lys) c.3631C>A (p.Gln1211Lys) n.267G>T | |
6 | g.33446668C= | CA1620016929 | SYNGAP1,SYNGAP1-AS1 | c.3418C= (p.Gln1140=) c.3676C= (p.Gln1226=) c.3628C= (p.Gln1210=) c.3499C= (p.Gln1167=) c.3631C= (p.Gln1211=) n.267G= | |
6 | g.33446668C>G | CA363637243 | SYNGAP1,SYNGAP1-AS1 | c.3418C>G (p.Gln1140Glu) c.3676C>G (p.Gln1226Glu) c.3628C>G (p.Gln1210Glu) c.3499C>G (p.Gln1167Glu) c.3631C>G (p.Gln1211Glu) n.267G>C | |
6 | g.33446668C>T | CA363637246 | SYNGAP1,SYNGAP1-AS1 | c.3418C>T (p.Gln1140Ter) c.3676C>T (p.Gln1226Ter) c.3628C>T (p.Gln1210Ter) c.3499C>T (p.Gln1167Ter) c.3631C>T (p.Gln1211Ter) n.267G>A | dbSNP |
6 | g.33446669A>C | CA363637249 | SYNGAP1,SYNGAP1-AS1 | c.3419A>C (p.Gln1140Pro) c.3677A>C (p.Gln1226Pro) c.3629A>C (p.Gln1210Pro) c.3500A>C (p.Gln1167Pro) c.3632A>C (p.Gln1211Pro) n.266T>G | |
6 | g.33446669A>G | CA363637251 | SYNGAP1,SYNGAP1-AS1 | c.3419A>G (p.Gln1140Arg) c.3677A>G (p.Gln1226Arg) c.3629A>G (p.Gln1210Arg) c.3500A>G (p.Gln1167Arg) c.3632A>G (p.Gln1211Arg) n.266T>C | |
6 | g.33446669A>T | CA363637255 | SYNGAP1,SYNGAP1-AS1 | c.3419A>T (p.Gln1140Leu) c.3677A>T (p.Gln1226Leu) c.3629A>T (p.Gln1210Leu) c.3500A>T (p.Gln1167Leu) c.3632A>T (p.Gln1211Leu) n.266T>A | |
6 | g.33446670G>A | CA449839674 | SYNGAP1,SYNGAP1-AS1 | c.3420G>A (p.Gln1140=) c.3678G>A (p.Gln1226=) c.3630G>A (p.Gln1210=) c.3501G>A (p.Gln1167=) c.3633G>A (p.Gln1211=) n.265C>T | dbSNP |
6 | g.33446670G>C | CA363637258 | SYNGAP1,SYNGAP1-AS1 | c.3420G>C (p.Gln1140His) c.3678G>C (p.Gln1226His) c.3630G>C (p.Gln1210His) c.3501G>C (p.Gln1167His) c.3633G>C (p.Gln1211His) n.265C>G | |
6 | g.33446670G= | CA1620016936 | SYNGAP1,SYNGAP1-AS1 | c.3420G= (p.Gln1140=) c.3678G= (p.Gln1226=) c.3630G= (p.Gln1210=) c.3501G= (p.Gln1167=) c.3633G= (p.Gln1211=) n.265C= | |
6 | g.33446670G>T | CA363637265 | SYNGAP1,SYNGAP1-AS1 | c.3420G>T (p.Gln1140His) c.3678G>T (p.Gln1226His) c.3630G>T (p.Gln1210His) c.3501G>T (p.Gln1167His) c.3633G>T (p.Gln1211His) n.265C>A | |
6 | g.33446671G>A | CA363637268 | SYNGAP1,SYNGAP1-AS1 | c.3421G>A (p.Glu1141Lys) c.3679G>A (p.Glu1227Lys) c.3631G>A (p.Glu1211Lys) c.3502G>A (p.Glu1168Lys) c.3634G>A (p.Glu1212Lys) n.264C>T | |
6 | g.33446671G>C | CA363637271 | SYNGAP1,SYNGAP1-AS1 | c.3421G>C (p.Glu1141Gln) c.3679G>C (p.Glu1227Gln) c.3631G>C (p.Glu1211Gln) c.3502G>C (p.Glu1168Gln) c.3634G>C (p.Glu1212Gln) n.264C>G | |
6 | g.33446671G= | CA1620016939 | SYNGAP1,SYNGAP1-AS1 | c.3421G= (p.Glu1141=) c.3679G= (p.Glu1227=) c.3631G= (p.Glu1211=) c.3502G= (p.Glu1168=) c.3634G= (p.Glu1212=) n.264C= | |
6 | g.33446671G>T | CA363637273 | SYNGAP1,SYNGAP1-AS1 | c.3421G>T (p.Glu1141Ter) c.3679G>T (p.Glu1227Ter) c.3631G>T (p.Glu1211Ter) c.3502G>T (p.Glu1168Ter) c.3634G>T (p.Glu1212Ter) n.264C>A | dbSNP |
6 | g.33446672A>C | CA363637279 | SYNGAP1,SYNGAP1-AS1 | c.3422A>C (p.Glu1141Ala) c.3680A>C (p.Glu1227Ala) c.3632A>C (p.Glu1211Ala) c.3503A>C (p.Glu1168Ala) c.3635A>C (p.Glu1212Ala) n.263T>G | |
6 | g.33446672A>G | CA363637277 | SYNGAP1,SYNGAP1-AS1 | c.3422A>G (p.Glu1141Gly) c.3680A>G (p.Glu1227Gly) c.3632A>G (p.Glu1211Gly) c.3503A>G (p.Glu1168Gly) c.3635A>G (p.Glu1212Gly) n.263T>C | |
6 | g.33446672A>T | CA363637275 | SYNGAP1,SYNGAP1-AS1 | c.3422A>T (p.Glu1141Val) c.3680A>T (p.Glu1227Val) c.3632A>T (p.Glu1211Val) c.3503A>T (p.Glu1168Val) c.3635A>T (p.Glu1212Val) n.263T>A | |
6 | g.33446673del | CA2739272946 | SYNGAP1,SYNGAP1-AS1 | c.3423del (p.Glu1142AsnfsTer7) c.3681del (p.Glu1228AsnfsTer7) c.3633del (p.Glu1212AsnfsTer7) c.3504del (p.Glu1169AsnfsTer7) c.3636del (p.Glu1213AsnfsTer7) n.263del | ClinVar |
6 | g.33446673A>C | CA363637282 | SYNGAP1,SYNGAP1-AS1 | c.3423A>C (p.Glu1141Asp) c.3681A>C (p.Glu1227Asp) c.3633A>C (p.Glu1211Asp) c.3504A>C (p.Glu1168Asp) c.3636A>C (p.Glu1212Asp) n.262T>G | |
6 | g.33446673A>G | CA449839675 | SYNGAP1,SYNGAP1-AS1 | c.3423A>G (p.Glu1141=) c.3681A>G (p.Glu1227=) c.3633A>G (p.Glu1211=) c.3504A>G (p.Glu1168=) c.3636A>G (p.Glu1212=) n.262T>C | ClinVar dbSNP |
6 | g.33446673A>T | CA363637284 | SYNGAP1,SYNGAP1-AS1 | c.3423A>T (p.Glu1141Asp) c.3681A>T (p.Glu1227Asp) c.3633A>T (p.Glu1211Asp) c.3504A>T (p.Glu1168Asp) c.3636A>T (p.Glu1212Asp) n.262T>A | |
6 | g.33446674G>A | CA363637285 | SYNGAP1,SYNGAP1-AS1 | c.3424G>A (p.Glu1142Lys) c.3682G>A (p.Glu1228Lys) c.3634G>A (p.Glu1212Lys) c.3505G>A (p.Glu1169Lys) c.3637G>A (p.Glu1213Lys) n.261C>T | |
6 | g.33446674G>C | CA363637286 | SYNGAP1,SYNGAP1-AS1 | c.3424G>C (p.Glu1142Gln) c.3682G>C (p.Glu1228Gln) c.3634G>C (p.Glu1212Gln) c.3505G>C (p.Glu1169Gln) c.3637G>C (p.Glu1213Gln) n.261C>G | |
6 | g.33446674G= | CA1620016942 | SYNGAP1,SYNGAP1-AS1 | c.3424G= (p.Glu1142=) c.3682G= (p.Glu1228=) c.3634G= (p.Glu1212=) c.3505G= (p.Glu1169=) c.3637G= (p.Glu1213=) n.261C= | |
6 | g.33446674G>T | CA363637287 | SYNGAP1,SYNGAP1-AS1 | c.3424G>T (p.Glu1142Ter) c.3682G>T (p.Glu1228Ter) c.3634G>T (p.Glu1212Ter) c.3505G>T (p.Glu1169Ter) c.3637G>T (p.Glu1213Ter) n.261C>A | dbSNP |
6 | g.33446675A>C | CA363637289 | SYNGAP1,SYNGAP1-AS1 | c.3425A>C (p.Glu1142Ala) c.3683A>C (p.Glu1228Ala) c.3635A>C (p.Glu1212Ala) c.3506A>C (p.Glu1169Ala) c.3638A>C (p.Glu1213Ala) n.260T>G | |
6 | g.33446675A>G | CA363637291 | SYNGAP1,SYNGAP1-AS1 | c.3425A>G (p.Glu1142Gly) c.3683A>G (p.Glu1228Gly) c.3635A>G (p.Glu1212Gly) c.3506A>G (p.Glu1169Gly) c.3638A>G (p.Glu1213Gly) n.260T>C | |
6 | g.33446675A>T | CA363637292 | SYNGAP1,SYNGAP1-AS1 | c.3425A>T (p.Glu1142Val) c.3683A>T (p.Glu1228Val) c.3635A>T (p.Glu1212Val) c.3506A>T (p.Glu1169Val) c.3638A>T (p.Glu1213Val) n.260T>A | |
6 | g.33446678_33446681del | CA658653623 | SYNGAP1,SYNGAP1-AS1 | c.3428_3431del (p.Gln1143ProfsTer5) c.3686_3689del (p.Gln1229ProfsTer5) c.3638_3641del (p.Gln1213ProfsTer5) c.3509_3512del (p.Gln1170ProfsTer5) c.3641_3644del (p.Gln1214ProfsTer5) n.257_260del | |
6 | g.33446676A>C | CA363637294 | SYNGAP1,SYNGAP1-AS1 | c.3426A>C (p.Glu1142Asp) c.3684A>C (p.Glu1228Asp) c.3636A>C (p.Glu1212Asp) c.3507A>C (p.Glu1169Asp) c.3639A>C (p.Glu1213Asp) n.259T>G | |
6 | g.33446676A>G | CA449839676 | SYNGAP1,SYNGAP1-AS1 | c.3426A>G (p.Glu1142=) c.3684A>G (p.Glu1228=) c.3636A>G (p.Glu1212=) c.3507A>G (p.Glu1169=) c.3639A>G (p.Glu1213=) n.259T>C | |
6 | g.33446676A>T | CA363637297 | SYNGAP1,SYNGAP1-AS1 | c.3426A>T (p.Glu1142Asp) c.3684A>T (p.Glu1228Asp) c.3636A>T (p.Glu1212Asp) c.3507A>T (p.Glu1169Asp) c.3639A>T (p.Glu1213Asp) n.259T>A | |
6 | g.33446677C>A | CA363637299 | SYNGAP1,SYNGAP1-AS1 | c.3427C>A (p.Gln1143Lys) c.3685C>A (p.Gln1229Lys) c.3637C>A (p.Gln1213Lys) c.3508C>A (p.Gln1170Lys) c.3640C>A (p.Gln1214Lys) n.258G>T | |
6 | g.33446677C>G | CA363637301 | SYNGAP1,SYNGAP1-AS1 | c.3427C>G (p.Gln1143Glu) c.3685C>G (p.Gln1229Glu) c.3637C>G (p.Gln1213Glu) c.3508C>G (p.Gln1170Glu) c.3640C>G (p.Gln1214Glu) n.258G>C | |
6 | g.33446677C>T | CA363637303 | SYNGAP1,SYNGAP1-AS1 | c.3427C>T (p.Gln1143Ter) c.3685C>T (p.Gln1229Ter) c.3637C>T (p.Gln1213Ter) c.3508C>T (p.Gln1170Ter) c.3640C>T (p.Gln1214Ter) n.258G>A | ClinVar dbSNP |
6 | g.33446678A>C | CA363637306 | SYNGAP1,SYNGAP1-AS1 | c.3428A>C (p.Gln1143Pro) c.3686A>C (p.Gln1229Pro) c.3638A>C (p.Gln1213Pro) c.3509A>C (p.Gln1170Pro) c.3641A>C (p.Gln1214Pro) n.257T>G | ClinVar dbSNP |
6 | g.33446678A>G | CA363637304 | SYNGAP1,SYNGAP1-AS1 | c.3428A>G (p.Gln1143Arg) c.3686A>G (p.Gln1229Arg) c.3638A>G (p.Gln1213Arg) c.3509A>G (p.Gln1170Arg) c.3641A>G (p.Gln1214Arg) n.257T>C | |
6 | g.33446678A>T | CA363637305 | SYNGAP1,SYNGAP1-AS1 | c.3428A>T (p.Gln1143Leu) c.3686A>T (p.Gln1229Leu) c.3638A>T (p.Gln1213Leu) c.3509A>T (p.Gln1170Leu) c.3641A>T (p.Gln1214Leu) n.257T>A | |
6 | g.33446679A= | CA1620016945 | SYNGAP1,SYNGAP1-AS1 | c.3429A= (p.Gln1143=) c.3687A= (p.Gln1229=) c.3639A= (p.Gln1213=) c.3510A= (p.Gln1170=) c.3642A= (p.Gln1214=) n.256T= | |
6 | g.33446679A>C | CA363637308 | SYNGAP1,SYNGAP1-AS1 | c.3429A>C (p.Gln1143His) c.3687A>C (p.Gln1229His) c.3639A>C (p.Gln1213His) c.3510A>C (p.Gln1170His) c.3642A>C (p.Gln1214His) n.256T>G | COSMIC COSMIC |
6 | g.33446679A>G | CA3759084 | SYNGAP1,SYNGAP1-AS1 | c.3429A>G (p.Gln1143=) c.3687A>G (p.Gln1229=) c.3639A>G (p.Gln1213=) c.3510A>G (p.Gln1170=) c.3642A>G (p.Gln1214=) n.256T>C | dbSNP ExAC gnomAD v2 |
6 | g.33446679A>T | CA363637311 | SYNGAP1,SYNGAP1-AS1 | c.3429A>T (p.Gln1143His) c.3687A>T (p.Gln1229His) c.3639A>T (p.Gln1213His) c.3510A>T (p.Gln1170His) c.3642A>T (p.Gln1214His) n.256T>A | |
6 | g.33446680A>C | CA363637313 | SYNGAP1,SYNGAP1-AS1 | c.3430A>C (p.Thr1144Pro) c.3688A>C (p.Thr1230Pro) c.3640A>C (p.Thr1214Pro) c.3511A>C (p.Thr1171Pro) c.3643A>C (p.Thr1215Pro) n.255T>G | |
6 | g.33446680A>G | CA363637316 | SYNGAP1,SYNGAP1-AS1 | c.3430A>G (p.Thr1144Ala) c.3688A>G (p.Thr1230Ala) c.3640A>G (p.Thr1214Ala) c.3511A>G (p.Thr1171Ala) c.3643A>G (p.Thr1215Ala) n.255T>C | |
6 | g.33446680A>T | CA363637318 | SYNGAP1,SYNGAP1-AS1 | c.3430A>T (p.Thr1144Ser) c.3688A>T (p.Thr1230Ser) c.3640A>T (p.Thr1214Ser) c.3511A>T (p.Thr1171Ser) c.3643A>T (p.Thr1215Ser) n.255T>A | |
6 | g.33446681C>A | CA363637321 | SYNGAP1,SYNGAP1-AS1 | c.3431C>A (p.Thr1144Asn) c.3689C>A (p.Thr1230Asn) c.3641C>A (p.Thr1214Asn) c.3512C>A (p.Thr1171Asn) c.3644C>A (p.Thr1215Asn) n.254G>T | |
6 | g.33446681C>G | CA363637324 | SYNGAP1,SYNGAP1-AS1 | c.3431C>G (p.Thr1144Ser) c.3689C>G (p.Thr1230Ser) c.3641C>G (p.Thr1214Ser) c.3512C>G (p.Thr1171Ser) c.3644C>G (p.Thr1215Ser) n.254G>C | |
6 | g.33446681C>T | CA363637325 | SYNGAP1,SYNGAP1-AS1 | c.3431C>T (p.Thr1144Ile) c.3689C>T (p.Thr1230Ile) c.3641C>T (p.Thr1214Ile) c.3512C>T (p.Thr1171Ile) c.3644C>T (p.Thr1215Ile) n.254G>A | |
6 | g.33446682C>A | CA449839677 | SYNGAP1,SYNGAP1-AS1 | c.3432C>A (p.Thr1144=) c.3690C>A (p.Thr1230=) c.3642C>A (p.Thr1214=) c.3513C>A (p.Thr1171=) c.3645C>A (p.Thr1215=) n.253G>T | ClinVar dbSNP |
6 | g.33446682C>G | CA449839678 | SYNGAP1,SYNGAP1-AS1 | c.3432C>G (p.Thr1144=) c.3690C>G (p.Thr1230=) c.3642C>G (p.Thr1214=) c.3513C>G (p.Thr1171=) c.3645C>G (p.Thr1215=) n.253G>C | |
6 | g.33446682C>T | CA449839679 | SYNGAP1,SYNGAP1-AS1 | c.3432C>T (p.Thr1144=) c.3690C>T (p.Thr1230=) c.3642C>T (p.Thr1214=) c.3513C>T (p.Thr1171=) c.3645C>T (p.Thr1215=) n.253G>A | dbSNP gnomAD v4 |
6 | g.33446683A>C | CA363637326 | SYNGAP1,SYNGAP1-AS1 | c.3433A>C (p.Ser1145Arg) c.3691A>C (p.Ser1231Arg) c.3643A>C (p.Ser1215Arg) c.3514A>C (p.Ser1172Arg) c.3646A>C (p.Ser1216Arg) n.252T>G | |
6 | g.33446683A>G | CA363637328 | SYNGAP1,SYNGAP1-AS1 | c.3433A>G (p.Ser1145Gly) c.3691A>G (p.Ser1231Gly) c.3643A>G (p.Ser1215Gly) c.3514A>G (p.Ser1172Gly) c.3646A>G (p.Ser1216Gly) n.252T>C | |
6 | g.33446683A>T | CA363637329 | SYNGAP1,SYNGAP1-AS1 | c.3433A>T (p.Ser1145Cys) c.3691A>T (p.Ser1231Cys) c.3643A>T (p.Ser1215Cys) c.3514A>T (p.Ser1172Cys) c.3646A>T (p.Ser1216Cys) n.252T>A | |
6 | g.33446684G>A | CA363637333 | SYNGAP1,SYNGAP1-AS1 | c.3434G>A (p.Ser1145Asn) c.3692G>A (p.Ser1231Asn) c.3644G>A (p.Ser1215Asn) c.3515G>A (p.Ser1172Asn) c.3647G>A (p.Ser1216Asn) n.251C>T | |
6 | g.33446684G>C | CA363637335 | SYNGAP1,SYNGAP1-AS1 | c.3434G>C (p.Ser1145Thr) c.3692G>C (p.Ser1231Thr) c.3644G>C (p.Ser1215Thr) c.3515G>C (p.Ser1172Thr) c.3647G>C (p.Ser1216Thr) n.251C>G | |
6 | g.33446684G>T | CA363637332 | SYNGAP1,SYNGAP1-AS1 | c.3434G>T (p.Ser1145Ile) c.3692G>T (p.Ser1231Ile) c.3644G>T (p.Ser1215Ile) c.3515G>T (p.Ser1172Ile) c.3647G>T (p.Ser1216Ile) n.251C>A | |
6 | g.33446685C>A | CA363637339 | SYNGAP1,SYNGAP1-AS1 | c.3435C>A (p.Ser1145Arg) c.3693C>A (p.Ser1231Arg) c.3645C>A (p.Ser1215Arg) c.3516C>A (p.Ser1172Arg) c.3648C>A (p.Ser1216Arg) n.250G>T | |
6 | g.33446685C>G | CA363637337 | SYNGAP1,SYNGAP1-AS1 | c.3435C>G (p.Ser1145Arg) c.3693C>G (p.Ser1231Arg) c.3645C>G (p.Ser1215Arg) c.3516C>G (p.Ser1172Arg) c.3648C>G (p.Ser1216Arg) n.250G>C | |
6 | g.33446685C>T | CA449839680 | SYNGAP1,SYNGAP1-AS1 | c.3435C>T (p.Ser1145=) c.3693C>T (p.Ser1231=) c.3645C>T (p.Ser1215=) c.3516C>T (p.Ser1172=) c.3648C>T (p.Ser1216=) n.250G>A | |
6 | g.33446686A= | CA1620016949 | SYNGAP1,SYNGAP1-AS1 | c.3436A= (p.Lys1146=) c.3694A= (p.Lys1232=) c.3646A= (p.Lys1216=) c.3517A= (p.Lys1173=) c.3649A= (p.Lys1217=) n.249T= | |
6 | g.33446686A>C | CA363637340 | SYNGAP1,SYNGAP1-AS1 | c.3436A>C (p.Lys1146Gln) c.3694A>C (p.Lys1232Gln) c.3646A>C (p.Lys1216Gln) c.3517A>C (p.Lys1173Gln) c.3649A>C (p.Lys1217Gln) n.249T>G | |
6 | g.33446686A>G | CA363637342 | SYNGAP1,SYNGAP1-AS1 | c.3436A>G (p.Lys1146Glu) c.3694A>G (p.Lys1232Glu) c.3646A>G (p.Lys1216Glu) c.3517A>G (p.Lys1173Glu) c.3649A>G (p.Lys1217Glu) n.249T>C | |
6 | g.33446686A>T | CA363637345 | SYNGAP1,SYNGAP1-AS1 | c.3436A>T (p.Lys1146Ter) c.3694A>T (p.Lys1232Ter) c.3646A>T (p.Lys1216Ter) c.3517A>T (p.Lys1173Ter) c.3649A>T (p.Lys1217Ter) n.249T>A | dbSNP |
6 | g.33446687A>C | CA363637347 | SYNGAP1,SYNGAP1-AS1 | c.3437A>C (p.Lys1146Thr) c.3695A>C (p.Lys1232Thr) c.3647A>C (p.Lys1216Thr) c.3518A>C (p.Lys1173Thr) c.3650A>C (p.Lys1217Thr) n.248T>G | |
6 | g.33446687A>G | CA363637352 | SYNGAP1,SYNGAP1-AS1 | c.3437A>G (p.Lys1146Arg) c.3695A>G (p.Lys1232Arg) c.3647A>G (p.Lys1216Arg) c.3518A>G (p.Lys1173Arg) c.3650A>G (p.Lys1217Arg) n.248T>C | |
6 | g.33446687A>T | CA363637354 | SYNGAP1,SYNGAP1-AS1 | c.3437A>T (p.Lys1146Ile) c.3695A>T (p.Lys1232Ile) c.3647A>T (p.Lys1216Ile) c.3518A>T (p.Lys1173Ile) c.3650A>T (p.Lys1217Ile) n.248T>A | |
6 | g.33446688A>C | CA363637356 | SYNGAP1,SYNGAP1-AS1 | c.3438A>C (p.Lys1146Asn) c.3696A>C (p.Lys1232Asn) c.3648A>C (p.Lys1216Asn) c.3519A>C (p.Lys1173Asn) c.3651A>C (p.Lys1217Asn) n.247T>G | |
6 | g.33446688A>G | CA449839681 | SYNGAP1,SYNGAP1-AS1 | c.3438A>G (p.Lys1146=) c.3696A>G (p.Lys1232=) c.3648A>G (p.Lys1216=) c.3519A>G (p.Lys1173=) c.3651A>G (p.Lys1217=) n.247T>C | gnomAD v4 |
6 | g.33446688A>T | CA363637358 | SYNGAP1,SYNGAP1-AS1 | c.3438A>T (p.Lys1146Asn) c.3696A>T (p.Lys1232Asn) c.3648A>T (p.Lys1216Asn) c.3519A>T (p.Lys1173Asn) c.3651A>T (p.Lys1217Asn) n.247T>A | |
6 | g.33446689A>C | CA363637359 | SYNGAP1,SYNGAP1-AS1 | c.3439A>C (p.Ile1147Leu) c.3697A>C (p.Ile1233Leu) c.3649A>C (p.Ile1217Leu) c.3520A>C (p.Ile1174Leu) c.3652A>C (p.Ile1218Leu) n.246T>G | |
6 | g.33446689A>G | CA363637361 | SYNGAP1,SYNGAP1-AS1 | c.3439A>G (p.Ile1147Val) c.3697A>G (p.Ile1233Val) c.3649A>G (p.Ile1217Val) c.3520A>G (p.Ile1174Val) c.3652A>G (p.Ile1218Val) n.246T>C | |
6 | g.33446689A>T | CA363637363 | SYNGAP1,SYNGAP1-AS1 | c.3439A>T (p.Ile1147Phe) c.3697A>T (p.Ile1233Phe) c.3649A>T (p.Ile1217Phe) c.3520A>T (p.Ile1174Phe) c.3652A>T (p.Ile1218Phe) n.246T>A | |
6 | g.33446690T>A | CA363637374 | SYNGAP1,SYNGAP1-AS1 | c.3440T>A (p.Ile1147Asn) c.3698T>A (p.Ile1233Asn) c.3650T>A (p.Ile1217Asn) c.3521T>A (p.Ile1174Asn) c.3653T>A (p.Ile1218Asn) n.245A>T | |
6 | g.33446690T>C | CA363637377 | SYNGAP1,SYNGAP1-AS1 | c.3440T>C (p.Ile1147Thr) c.3698T>C (p.Ile1233Thr) c.3650T>C (p.Ile1217Thr) c.3521T>C (p.Ile1174Thr) c.3653T>C (p.Ile1218Thr) n.245A>G | |
6 | g.33446690T>G | CA363637380 | SYNGAP1,SYNGAP1-AS1 | c.3440T>G (p.Ile1147Ser) c.3698T>G (p.Ile1233Ser) c.3650T>G (p.Ile1217Ser) c.3521T>G (p.Ile1174Ser) c.3653T>G (p.Ile1218Ser) n.245A>C | |
6 | g.33446691C>A | CA449839683 | SYNGAP1,SYNGAP1-AS1 | c.3441C>A (p.Ile1147=) c.3699C>A (p.Ile1233=) c.3651C>A (p.Ile1217=) c.3522C>A (p.Ile1174=) c.3654C>A (p.Ile1218=) n.244G>T | gnomAD v4 |
6 | g.33446691C>G | CA363637383 | SYNGAP1,SYNGAP1-AS1 | c.3441C>G (p.Ile1147Met) c.3699C>G (p.Ile1233Met) c.3651C>G (p.Ile1217Met) c.3522C>G (p.Ile1174Met) c.3654C>G (p.Ile1218Met) n.244G>C | |
6 | g.33446691C>T | CA449839682 | SYNGAP1,SYNGAP1-AS1 | c.3441C>T (p.Ile1147=) c.3699C>T (p.Ile1233=) c.3651C>T (p.Ile1217=) c.3522C>T (p.Ile1174=) c.3654C>T (p.Ile1218=) n.244G>A | COSMIC COSMIC |
6 | g.33446692C>A | CA363637395 | SYNGAP1,SYNGAP1-AS1 | c.3442C>A (p.Leu1148Met) c.3700C>A (p.Leu1234Met) c.3652C>A (p.Leu1218Met) c.3523C>A (p.Leu1175Met) c.3655C>A (p.Leu1219Met) n.243G>T | |
6 | g.33446692C>G | CA363637400 | SYNGAP1,SYNGAP1-AS1 | c.3442C>G (p.Leu1148Val) c.3700C>G (p.Leu1234Val) c.3652C>G (p.Leu1218Val) c.3523C>G (p.Leu1175Val) c.3655C>G (p.Leu1219Val) n.243G>C | |
6 | g.33446692C>T | CA449839684 | SYNGAP1,SYNGAP1-AS1 | c.3442C>T (p.Leu1148=) c.3700C>T (p.Leu1234=) c.3652C>T (p.Leu1218=) c.3523C>T (p.Leu1175=) c.3655C>T (p.Leu1219=) n.243G>A | |
6 | g.33446693T>A | CA363637403 | SYNGAP1,SYNGAP1-AS1 | c.3443T>A (p.Leu1148Gln) c.3701T>A (p.Leu1234Gln) c.3653T>A (p.Leu1218Gln) c.3524T>A (p.Leu1175Gln) c.3656T>A (p.Leu1219Gln) n.242A>T | |
6 | g.33446693T>C | CA363637405 | SYNGAP1,SYNGAP1-AS1 | c.3443T>C (p.Leu1148Pro) c.3701T>C (p.Leu1234Pro) c.3653T>C (p.Leu1218Pro) c.3524T>C (p.Leu1175Pro) c.3656T>C (p.Leu1219Pro) n.242A>G | |
6 | g.33446693T>G | CA363637409 | SYNGAP1,SYNGAP1-AS1 | c.3443T>G (p.Leu1148Arg) c.3701T>G (p.Leu1234Arg) c.3653T>G (p.Leu1218Arg) c.3524T>G (p.Leu1175Arg) c.3656T>G (p.Leu1219Arg) n.242A>C | |
6 | g.33446694G>A | CA449839687 | SYNGAP1,SYNGAP1-AS1 | c.3444G>A (p.Leu1148=) c.3702G>A (p.Leu1234=) c.3654G>A (p.Leu1218=) c.3525G>A (p.Leu1175=) c.3657G>A (p.Leu1219=) n.241C>T | |
6 | g.33446694G>C | CA449839686 | SYNGAP1,SYNGAP1-AS1 | c.3444G>C (p.Leu1148=) c.3702G>C (p.Leu1234=) c.3654G>C (p.Leu1218=) c.3525G>C (p.Leu1175=) c.3657G>C (p.Leu1219=) n.241C>G | |
6 | g.33446694G>T | CA449839685 | SYNGAP1,SYNGAP1-AS1 | c.3444G>T (p.Leu1148=) c.3702G>T (p.Leu1234=) c.3654G>T (p.Leu1218=) c.3525G>T (p.Leu1175=) c.3657G>T (p.Leu1219=) n.241C>A | |
6 | g.33446695A>C | CA363637412 | SYNGAP1,SYNGAP1-AS1 | c.3445A>C (p.Met1149Leu) c.3703A>C (p.Met1235Leu) c.3655A>C (p.Met1219Leu) c.3526A>C (p.Met1176Leu) c.3658A>C (p.Met1220Leu) n.240T>G | |
6 | g.33446695A>G | CA363637414 | SYNGAP1,SYNGAP1-AS1 | c.3445A>G (p.Met1149Val) c.3703A>G (p.Met1235Val) c.3655A>G (p.Met1219Val) c.3526A>G (p.Met1176Val) c.3658A>G (p.Met1220Val) n.240T>C | |
6 | g.33446695A>T | CA363637426 | SYNGAP1,SYNGAP1-AS1 | c.3445A>T (p.Met1149Leu) c.3703A>T (p.Met1235Leu) c.3655A>T (p.Met1219Leu) c.3526A>T (p.Met1176Leu) c.3658A>T (p.Met1220Leu) n.240T>A | |
6 | g.33446696T>A | CA363637429 | SYNGAP1,SYNGAP1-AS1 | c.3446T>A (p.Met1149Lys) c.3704T>A (p.Met1235Lys) c.3656T>A (p.Met1219Lys) c.3527T>A (p.Met1176Lys) c.3659T>A (p.Met1220Lys) n.239A>T | |
6 | g.33446696T>C | CA363637432 | SYNGAP1,SYNGAP1-AS1 | c.3446T>C (p.Met1149Thr) c.3704T>C (p.Met1235Thr) c.3656T>C (p.Met1219Thr) c.3527T>C (p.Met1176Thr) c.3659T>C (p.Met1220Thr) n.239A>G | |
6 | g.33446696T>G | CA363637434 | SYNGAP1,SYNGAP1-AS1 | c.3446T>G (p.Met1149Arg) c.3704T>G (p.Met1235Arg) c.3656T>G (p.Met1219Arg) c.3527T>G (p.Met1176Arg) c.3659T>G (p.Met1220Arg) n.239A>C | |
6 | g.33446697G>A | CA363637437 | SYNGAP1,SYNGAP1-AS1 | c.3447G>A (p.Met1149Ile) c.3705G>A (p.Met1235Ile) c.3657G>A (p.Met1219Ile) c.3528G>A (p.Met1176Ile) c.3660G>A (p.Met1220Ile) n.238C>T | ClinVar |
6 | g.33446697G>C | CA363637440 | SYNGAP1,SYNGAP1-AS1 | c.3447G>C (p.Met1149Ile) c.3705G>C (p.Met1235Ile) c.3657G>C (p.Met1219Ile) c.3528G>C (p.Met1176Ile) c.3660G>C (p.Met1220Ile) n.238C>G | gnomAD v4 |
6 | g.33446697G>T | CA363637442 | SYNGAP1,SYNGAP1-AS1 | c.3447G>T (p.Met1149Ile) c.3705G>T (p.Met1235Ile) c.3657G>T (p.Met1219Ile) c.3528G>T (p.Met1176Ile) c.3660G>T (p.Met1220Ile) n.238C>A | |
6 | g.33446698C>A | CA363637455 | SYNGAP1,SYNGAP1-AS1 | c.3448C>A (p.Gln1150Lys) c.3706C>A (p.Gln1236Lys) c.3658C>A (p.Gln1220Lys) c.3529C>A (p.Gln1177Lys) c.3661C>A (p.Gln1221Lys) n.237G>T | |
6 | g.33446698C= | CA1620016954 | SYNGAP1,SYNGAP1-AS1 | c.3448C= (p.Gln1150=) c.3706C= (p.Gln1236=) c.3658C= (p.Gln1220=) c.3529C= (p.Gln1177=) c.3661C= (p.Gln1221=) n.237G= | |
6 | g.33446698C>G | CA363637448 | SYNGAP1,SYNGAP1-AS1 | c.3448C>G (p.Gln1150Glu) c.3706C>G (p.Gln1236Glu) c.3658C>G (p.Gln1220Glu) c.3529C>G (p.Gln1177Glu) c.3661C>G (p.Gln1221Glu) n.237G>C | |
6 | g.33446698C>T | CA363637452 | SYNGAP1,SYNGAP1-AS1 | c.3448C>T (p.Gln1150Ter) c.3706C>T (p.Gln1236Ter) c.3658C>T (p.Gln1220Ter) c.3529C>T (p.Gln1177Ter) c.3661C>T (p.Gln1221Ter) n.237G>A | ClinVar dbSNP |
6 | g.33446699A>C | CA363637469 | SYNGAP1,SYNGAP1-AS1 | c.3449A>C (p.Gln1150Pro) c.3707A>C (p.Gln1236Pro) c.3659A>C (p.Gln1220Pro) c.3530A>C (p.Gln1177Pro) c.3662A>C (p.Gln1221Pro) n.236T>G | |
6 | g.33446699A>G | CA363637472 | SYNGAP1,SYNGAP1-AS1 | c.3449A>G (p.Gln1150Arg) c.3707A>G (p.Gln1236Arg) c.3659A>G (p.Gln1220Arg) c.3530A>G (p.Gln1177Arg) c.3662A>G (p.Gln1221Arg) n.236T>C | |
6 | g.33446699A>T | CA363637475 | SYNGAP1,SYNGAP1-AS1 | c.3449A>T (p.Gln1150Leu) c.3707A>T (p.Gln1236Leu) c.3659A>T (p.Gln1220Leu) c.3530A>T (p.Gln1177Leu) c.3662A>T (p.Gln1221Leu) n.236T>A | |
6 | g.33446700G>A | CA449839688 | SYNGAP1,SYNGAP1-AS1 | c.3450G>A (p.Gln1150=) c.3708G>A (p.Gln1236=) c.3660G>A (p.Gln1220=) c.3531G>A (p.Gln1177=) c.3663G>A (p.Gln1221=) n.235C>T | |
6 | g.33446700G>C | CA363637479 | SYNGAP1,SYNGAP1-AS1 | c.3450G>C (p.Gln1150His) c.3708G>C (p.Gln1236His) c.3660G>C (p.Gln1220His) c.3531G>C (p.Gln1177His) c.3663G>C (p.Gln1221His) n.235C>G | |
6 | g.33446700G>T | CA363637482 | SYNGAP1,SYNGAP1-AS1 | c.3450G>T (p.Gln1150His) c.3708G>T (p.Gln1236His) c.3660G>T (p.Gln1220His) c.3531G>T (p.Gln1177His) c.3663G>T (p.Gln1221His) n.235C>A | |
6 | g.33446701T>A | CA363637484 | SYNGAP1,SYNGAP1-AS1 | c.3451T>A (p.Tyr1151Asn) c.3709T>A (p.Tyr1237Asn) c.3661T>A (p.Tyr1221Asn) c.3532T>A (p.Tyr1178Asn) c.3664T>A (p.Tyr1222Asn) n.234A>T | |
6 | g.33446701T>C | CA363637488 | SYNGAP1,SYNGAP1-AS1 | c.3451T>C (p.Tyr1151His) c.3709T>C (p.Tyr1237His) c.3661T>C (p.Tyr1221His) c.3532T>C (p.Tyr1178His) c.3664T>C (p.Tyr1222His) n.234A>G | dbSNP |
6 | g.33446701T>G | CA363637489 | SYNGAP1,SYNGAP1-AS1 | c.3451T>G (p.Tyr1151Asp) c.3709T>G (p.Tyr1237Asp) c.3661T>G (p.Tyr1221Asp) c.3532T>G (p.Tyr1178Asp) c.3664T>G (p.Tyr1222Asp) n.234A>C | |
6 | g.33446701T= | CA1620016957 | SYNGAP1,SYNGAP1-AS1 | c.3451T= (p.Tyr1151=) c.3709T= (p.Tyr1237=) c.3661T= (p.Tyr1221=) c.3532T= (p.Tyr1178=) c.3664T= (p.Tyr1222=) n.234A= | |
6 | g.33446702A= | CA1620016959 | SYNGAP1,SYNGAP1-AS1 | c.3452A= (p.Tyr1151=) c.3710A= (p.Tyr1237=) c.3662A= (p.Tyr1221=) c.3533A= (p.Tyr1178=) c.3665A= (p.Tyr1222=) n.233T= | |
6 | g.33446702A>C | CA363637492 | SYNGAP1,SYNGAP1-AS1 | c.3452A>C (p.Tyr1151Ser) c.3710A>C (p.Tyr1237Ser) c.3662A>C (p.Tyr1221Ser) c.3533A>C (p.Tyr1178Ser) c.3665A>C (p.Tyr1222Ser) n.233T>G | |
6 | g.33446702A>G | CA363637493 | SYNGAP1,SYNGAP1-AS1 | c.3452A>G (p.Tyr1151Cys) c.3710A>G (p.Tyr1237Cys) c.3662A>G (p.Tyr1221Cys) c.3533A>G (p.Tyr1178Cys) c.3665A>G (p.Tyr1222Cys) n.233T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33446702A>T | CA363637497 | SYNGAP1,SYNGAP1-AS1 | c.3452A>T (p.Tyr1151Phe) c.3710A>T (p.Tyr1237Phe) c.3662A>T (p.Tyr1221Phe) c.3533A>T (p.Tyr1178Phe) c.3665A>T (p.Tyr1222Phe) n.233T>A | |
6 | g.33446703T>A | CA363637501 | SYNGAP1,SYNGAP1-AS1 | c.3453T>A (p.Tyr1151Ter) c.3711T>A (p.Tyr1237Ter) c.3663T>A (p.Tyr1221Ter) c.3534T>A (p.Tyr1178Ter) c.3666T>A (p.Tyr1222Ter) n.232A>T | ClinVar |
6 | g.33446703T>C | CA449839689 | SYNGAP1,SYNGAP1-AS1 | c.3453T>C (p.Tyr1151=) c.3711T>C (p.Tyr1237=) c.3663T>C (p.Tyr1221=) c.3534T>C (p.Tyr1178=) c.3666T>C (p.Tyr1222=) n.232A>G | |
6 | g.33446703T>G | CA363637504 | SYNGAP1,SYNGAP1-AS1 | c.3453T>G (p.Tyr1151Ter) c.3711T>G (p.Tyr1237Ter) c.3663T>G (p.Tyr1221Ter) c.3534T>G (p.Tyr1178Ter) c.3666T>G (p.Tyr1222Ter) n.232A>C | |
6 | g.33446704C>A | CA363637517 | SYNGAP1,SYNGAP1-AS1 | c.3454C>A (p.Gln1152Lys) c.3712C>A (p.Gln1238Lys) c.3664C>A (p.Gln1222Lys) c.3535C>A (p.Gln1179Lys) c.3667C>A (p.Gln1223Lys) n.231G>T | |
6 | g.33446704C= | CA1620016962 | SYNGAP1,SYNGAP1-AS1 | c.3454C= (p.Gln1152=) c.3712C= (p.Gln1238=) c.3664C= (p.Gln1222=) c.3535C= (p.Gln1179=) c.3667C= (p.Gln1223=) n.231G= | |
6 | g.33446704C>G | CA363637516 | SYNGAP1,SYNGAP1-AS1 | c.3454C>G (p.Gln1152Glu) c.3712C>G (p.Gln1238Glu) c.3664C>G (p.Gln1222Glu) c.3535C>G (p.Gln1179Glu) c.3667C>G (p.Gln1223Glu) n.231G>C | |
6 | g.33446704C>T | CA363637508 | SYNGAP1,SYNGAP1-AS1 | c.3454C>T (p.Gln1152Ter) c.3712C>T (p.Gln1238Ter) c.3664C>T (p.Gln1222Ter) c.3535C>T (p.Gln1179Ter) c.3667C>T (p.Gln1223Ter) n.231G>A | dbSNP |
6 | g.33446705A>C | CA363637518 | SYNGAP1,SYNGAP1-AS1 | c.3455A>C (p.Gln1152Pro) c.3713A>C (p.Gln1238Pro) c.3665A>C (p.Gln1222Pro) c.3536A>C (p.Gln1179Pro) c.3668A>C (p.Gln1223Pro) n.230T>G | |
6 | g.33446705A>G | CA363637519 | SYNGAP1,SYNGAP1-AS1 | c.3455A>G (p.Gln1152Arg) c.3713A>G (p.Gln1238Arg) c.3665A>G (p.Gln1222Arg) c.3536A>G (p.Gln1179Arg) c.3668A>G (p.Gln1223Arg) n.230T>C | |
6 | g.33446705A>T | CA363637522 | SYNGAP1,SYNGAP1-AS1 | c.3455A>T (p.Gln1152Leu) c.3713A>T (p.Gln1238Leu) c.3665A>T (p.Gln1222Leu) c.3536A>T (p.Gln1179Leu) c.3668A>T (p.Gln1223Leu) n.230T>A | |
6 | g.33446706G>A | CA449839690 | SYNGAP1,SYNGAP1-AS1 | c.3456G>A (p.Gln1152=) c.3714G>A (p.Gln1238=) c.3666G>A (p.Gln1222=) c.3537G>A (p.Gln1179=) c.3669G>A (p.Gln1223=) n.229C>T | ClinVar dbSNP gnomAD v4 |
6 | g.33446706G>C | CA363637527 | SYNGAP1,SYNGAP1-AS1 | c.3456G>C (p.Gln1152His) c.3714G>C (p.Gln1238His) c.3666G>C (p.Gln1222His) c.3537G>C (p.Gln1179His) c.3669G>C (p.Gln1223His) n.229C>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33446706G= | CA1620016966 | SYNGAP1,SYNGAP1-AS1 | c.3456G= (p.Gln1152=) c.3714G= (p.Gln1238=) c.3666G= (p.Gln1222=) c.3537G= (p.Gln1179=) c.3669G= (p.Gln1223=) n.229C= | |
6 | g.33446706G>T | CA363637529 | SYNGAP1,SYNGAP1-AS1 | c.3456G>T (p.Gln1152His) c.3714G>T (p.Gln1238His) c.3666G>T (p.Gln1222His) c.3537G>T (p.Gln1179His) c.3669G>T (p.Gln1223His) n.229C>A | |
6 | g.33446707G>A | CA363637538 | SYNGAP1,SYNGAP1-AS1 | c.3457G>A (p.Ala1153Thr) c.3715G>A (p.Ala1239Thr) c.3667G>A (p.Ala1223Thr) c.3538G>A (p.Ala1180Thr) c.3670G>A (p.Ala1224Thr) n.228C>T | |
6 | g.33446707G>C | CA363637541 | SYNGAP1,SYNGAP1-AS1 | c.3457G>C (p.Ala1153Pro) c.3715G>C (p.Ala1239Pro) c.3667G>C (p.Ala1223Pro) c.3538G>C (p.Ala1180Pro) c.3670G>C (p.Ala1224Pro) n.228C>G | |
6 | g.33446707G>T | CA363637542 | SYNGAP1,SYNGAP1-AS1 | c.3457G>T (p.Ala1153Ser) c.3715G>T (p.Ala1239Ser) c.3667G>T (p.Ala1223Ser) c.3538G>T (p.Ala1180Ser) c.3670G>T (p.Ala1224Ser) n.228C>A | |
6 | g.33446708C>A | CA363637545 | SYNGAP1,SYNGAP1-AS1 | c.3458C>A (p.Ala1153Asp) c.3716C>A (p.Ala1239Asp) c.3668C>A (p.Ala1223Asp) c.3539C>A (p.Ala1180Asp) c.3671C>A (p.Ala1224Asp) n.227G>T | |
6 | g.33446708C>G | CA363637548 | SYNGAP1,SYNGAP1-AS1 | c.3458C>G (p.Ala1153Gly) c.3716C>G (p.Ala1239Gly) c.3668C>G (p.Ala1223Gly) c.3539C>G (p.Ala1180Gly) c.3671C>G (p.Ala1224Gly) n.227G>C | |
6 | g.33446708C>T | CA363637550 | SYNGAP1,SYNGAP1-AS1 | c.3458C>T (p.Ala1153Val) c.3716C>T (p.Ala1239Val) c.3668C>T (p.Ala1223Val) c.3539C>T (p.Ala1180Val) c.3671C>T (p.Ala1224Val) n.227G>A | |
6 | g.33446709C>A | CA449839691 | SYNGAP1,SYNGAP1-AS1 | c.3459C>A (p.Ala1153=) c.3717C>A (p.Ala1239=) c.3669C>A (p.Ala1223=) c.3540C>A (p.Ala1180=) c.3672C>A (p.Ala1224=) n.226G>T | |
6 | g.33446709C>G | CA449839692 | SYNGAP1,SYNGAP1-AS1 | c.3459C>G (p.Ala1153=) c.3717C>G (p.Ala1239=) c.3669C>G (p.Ala1223=) c.3540C>G (p.Ala1180=) c.3672C>G (p.Ala1224=) n.226G>C | |
6 | g.33446709C>T | CA449839693 | SYNGAP1,SYNGAP1-AS1 | c.3459C>T (p.Ala1153=) c.3717C>T (p.Ala1239=) c.3669C>T (p.Ala1223=) c.3540C>T (p.Ala1180=) c.3672C>T (p.Ala1224=) n.226G>A | gnomAD v4 |
6 | g.33446710C>A | CA449839694 | SYNGAP1,SYNGAP1-AS1 | c.3460C>A (p.Arg1154=) c.3718C>A (p.Arg1240=) c.3670C>A (p.Arg1224=) c.3541C>A (p.Arg1181=) c.3673C>A (p.Arg1225=) n.225G>T | |
6 | g.33446710C= | CA1620016971 | SYNGAP1,SYNGAP1-AS1 | c.3460C= (p.Arg1154=) c.3718C= (p.Arg1240=) c.3670C= (p.Arg1224=) c.3541C= (p.Arg1181=) c.3673C= (p.Arg1225=) n.225G= | |
6 | g.33446710C>G | CA363637553 | SYNGAP1,SYNGAP1-AS1 | c.3460C>G (p.Arg1154Gly) c.3718C>G (p.Arg1240Gly) c.3670C>G (p.Arg1224Gly) c.3541C>G (p.Arg1181Gly) c.3673C>G (p.Arg1225Gly) n.225G>C | |
6 | g.33446710C>T | CA358213 | SYNGAP1,SYNGAP1-AS1 | c.3460C>T (p.Arg1154Ter) c.3718C>T (p.Arg1240Ter) c.3670C>T (p.Arg1224Ter) c.3541C>T (p.Arg1181Ter) c.3673C>T (p.Arg1225Ter) n.225G>A | ClinVar dbSNP |
6 | g.33446711G>A | CA363637564 | SYNGAP1,SYNGAP1-AS1 | c.3461G>A (p.Arg1154Gln) c.3719G>A (p.Arg1240Gln) c.3671G>A (p.Arg1224Gln) n.1G>A c.3542G>A (p.Arg1181Gln) c.3674G>A (p.Arg1225Gln) n.224C>T | gnomAD v4 |
6 | g.33446711G>C | CA363637562 | SYNGAP1,SYNGAP1-AS1 | c.3461G>C (p.Arg1154Pro) c.3719G>C (p.Arg1240Pro) c.3671G>C (p.Arg1224Pro) n.1G>C c.3542G>C (p.Arg1181Pro) c.3674G>C (p.Arg1225Pro) n.224C>G | |
6 | g.33446711G>T | CA363637558 | SYNGAP1,SYNGAP1-AS1 | c.3461G>T (p.Arg1154Leu) c.3719G>T (p.Arg1240Leu) c.3671G>T (p.Arg1224Leu) n.1G>T c.3542G>T (p.Arg1181Leu) c.3674G>T (p.Arg1225Leu) n.224C>A | |
6 | g.33446712A>C | CA449839696 | SYNGAP1,SYNGAP1-AS1 | c.3462A>C (p.Arg1154=) c.3720A>C (p.Arg1240=) c.3672A>C (p.Arg1224=) n.2A>C c.3543A>C (p.Arg1181=) c.3675A>C (p.Arg1225=) n.223T>G | |
6 | g.33446712A>G | CA449839697 | SYNGAP1,SYNGAP1-AS1 | c.3462A>G (p.Arg1154=) c.3720A>G (p.Arg1240=) c.3672A>G (p.Arg1224=) n.2A>G c.3543A>G (p.Arg1181=) c.3675A>G (p.Arg1225=) n.223T>C | |
6 | g.33446712A>T | CA449839695 | SYNGAP1,SYNGAP1-AS1 | c.3462A>T (p.Arg1154=) c.3720A>T (p.Arg1240=) c.3672A>T (p.Arg1224=) n.2A>T c.3543A>T (p.Arg1181=) c.3675A>T (p.Arg1225=) n.223T>A | |
6 | g.33446713C>A | CA363637567 | SYNGAP1,SYNGAP1-AS1 | c.3463C>A (p.Leu1155Met) c.3721C>A (p.Leu1241Met) c.3673C>A (p.Leu1225Met) n.3C>A c.3544C>A (p.Leu1182Met) c.3676C>A (p.Leu1226Met) n.222G>T | |
6 | g.33446713C>G | CA363637571 | SYNGAP1,SYNGAP1-AS1 | c.3463C>G (p.Leu1155Val) c.3721C>G (p.Leu1241Val) c.3673C>G (p.Leu1225Val) n.3C>G c.3544C>G (p.Leu1182Val) c.3676C>G (p.Leu1226Val) n.222G>C | |
6 | g.33446713C>T | CA449839698 | SYNGAP1,SYNGAP1-AS1 | c.3463C>T (p.Leu1155=) c.3721C>T (p.Leu1241=) c.3673C>T (p.Leu1225=) n.3C>T c.3544C>T (p.Leu1182=) c.3676C>T (p.Leu1226=) n.222G>A | gnomAD v4 |
6 | g.33446713_33446715delinsCTG | CA1620016972 | SYNGAP1,SYNGAP1-AS1 | c.3463_3465delinsCTG (p.Leu1155=) c.3721_3723delinsCTG (p.Leu1241=) c.3673_3675delinsCTG (p.Leu1225=) n.3_5delinsCTG c.3544_3546delinsCTG (p.Leu1182=) c.3676_3678delinsCTG (p.Leu1226=) n.220_222delinsCAG | |
6 | g.33446714T>A | CA363637575 | SYNGAP1,SYNGAP1-AS1 | c.3464T>A (p.Leu1155Gln) c.3722T>A (p.Leu1241Gln) c.3674T>A (p.Leu1225Gln) n.4T>A c.3545T>A (p.Leu1182Gln) c.3677T>A (p.Leu1226Gln) n.221A>T | |
6 | g.33446714T>C | CA363637579 | SYNGAP1,SYNGAP1-AS1 | c.3464T>C (p.Leu1155Pro) c.3722T>C (p.Leu1241Pro) c.3674T>C (p.Leu1225Pro) n.4T>C c.3545T>C (p.Leu1182Pro) c.3677T>C (p.Leu1226Pro) n.221A>G | |
6 | g.33446714T>G | CA363637584 | SYNGAP1,SYNGAP1-AS1 | c.3464T>G (p.Leu1155Arg) c.3722T>G (p.Leu1241Arg) c.3674T>G (p.Leu1225Arg) n.4T>G c.3545T>G (p.Leu1182Arg) c.3677T>G (p.Leu1226Arg) n.221A>C | |
6 | g.33446714_33446715del | CA645372820 | SYNGAP1,SYNGAP1-AS1 | c.3464_3465del (p.Leu1155ArgfsTer4) c.3722_3723del (p.Leu1241ArgfsTer4) c.3674_3675del (p.Leu1225ArgfsTer4) n.4_5del c.3545_3546del (p.Leu1182ArgfsTer4) c.3677_3678del (p.Leu1226ArgfsTer4) n.220_221del | ClinVar dbSNP |
6 | g.33446715G>A | CA449839699 | SYNGAP1,SYNGAP1-AS1 | c.3465G>A (p.Leu1155=) c.3723G>A (p.Leu1241=) c.3675G>A (p.Leu1225=) n.5G>A c.3546G>A (p.Leu1182=) c.3678G>A (p.Leu1226=) n.220C>T | ClinVar dbSNP |
6 | g.33446715G>C | CA449839700 | SYNGAP1,SYNGAP1-AS1 | c.3465G>C (p.Leu1155=) c.3723G>C (p.Leu1241=) c.3675G>C (p.Leu1225=) n.5G>C c.3546G>C (p.Leu1182=) c.3678G>C (p.Leu1226=) n.220C>G | |
6 | g.33446715G>T | CA449839701 | SYNGAP1,SYNGAP1-AS1 | c.3465G>T (p.Leu1155=) c.3723G>T (p.Leu1241=) c.3675G>T (p.Leu1225=) n.5G>T c.3546G>T (p.Leu1182=) c.3678G>T (p.Leu1226=) n.220C>A | |
6 | g.33446716G>A | CA363637588 | SYNGAP1,SYNGAP1-AS1 | c.3466G>A (p.Glu1156Lys) c.3724G>A (p.Glu1242Lys) c.3676G>A (p.Glu1226Lys) n.6G>A c.3547G>A (p.Glu1183Lys) c.3679G>A (p.Glu1227Lys) n.219C>T | gnomAD v4 |
6 | g.33446716G>C | CA363637590 | SYNGAP1,SYNGAP1-AS1 | c.3466G>C (p.Glu1156Gln) c.3724G>C (p.Glu1242Gln) c.3676G>C (p.Glu1226Gln) n.6G>C c.3547G>C (p.Glu1183Gln) c.3679G>C (p.Glu1227Gln) n.219C>G | |
6 | g.33446716G= | CA1620016977 | SYNGAP1,SYNGAP1-AS1 | c.3466G= (p.Glu1156=) c.3724G= (p.Glu1242=) c.3676G= (p.Glu1226=) n.6G= c.3547G= (p.Glu1183=) c.3679G= (p.Glu1227=) n.219C= | |
6 | g.33446716G>T | CA363637599 | SYNGAP1,SYNGAP1-AS1 | c.3466G>T (p.Glu1156Ter) c.3724G>T (p.Glu1242Ter) c.3676G>T (p.Glu1226Ter) n.6G>T c.3547G>T (p.Glu1183Ter) c.3679G>T (p.Glu1227Ter) n.219C>A | dbSNP |
6 | g.33446717A>C | CA363637601 | SYNGAP1,SYNGAP1-AS1 | c.3467A>C (p.Glu1156Ala) c.3725A>C (p.Glu1242Ala) c.3677A>C (p.Glu1226Ala) n.7A>C c.3548A>C (p.Glu1183Ala) c.3680A>C (p.Glu1227Ala) n.218T>G | |
6 | g.33446717A>G | CA363637603 | SYNGAP1,SYNGAP1-AS1 | c.3467A>G (p.Glu1156Gly) c.3725A>G (p.Glu1242Gly) c.3677A>G (p.Glu1226Gly) n.7A>G c.3548A>G (p.Glu1183Gly) c.3680A>G (p.Glu1227Gly) n.218T>C | |
6 | g.33446717A>T | CA363637606 | SYNGAP1,SYNGAP1-AS1 | c.3467A>T (p.Glu1156Val) c.3725A>T (p.Glu1242Val) c.3677A>T (p.Glu1226Val) n.7A>T c.3548A>T (p.Glu1183Val) c.3680A>T (p.Glu1227Val) n.218T>A | |
6 | g.33446718G>A | CA449839702 | SYNGAP1,SYNGAP1-AS1 | c.3468G>A (p.Glu1156=) c.3726G>A (p.Glu1242=) c.3678G>A (p.Glu1226=) n.8G>A c.3549G>A (p.Glu1183=) c.3681G>A (p.Glu1227=) n.217C>T | ClinVar |
6 | g.33446718G>C | CA363637611 | SYNGAP1,SYNGAP1-AS1 | c.3468G>C (p.Glu1156Asp) c.3726G>C (p.Glu1242Asp) c.3678G>C (p.Glu1226Asp) n.8G>C c.3549G>C (p.Glu1183Asp) c.3681G>C (p.Glu1227Asp) n.217C>G | |
6 | g.33446718G>T | CA363637614 | SYNGAP1,SYNGAP1-AS1 | c.3468G>T (p.Glu1156Asp) c.3726G>T (p.Glu1242Asp) c.3678G>T (p.Glu1226Asp) n.8G>T c.3549G>T (p.Glu1183Asp) c.3681G>T (p.Glu1227Asp) n.217C>A | |
6 | g.33446719C>A | CA363637634 | SYNGAP1,SYNGAP1-AS1 | c.3469C>A (p.Gln1157Lys) c.3727C>A (p.Gln1243Lys) c.3679C>A (p.Gln1227Lys) n.9C>A c.3550C>A (p.Gln1184Lys) c.3682C>A (p.Gln1228Lys) n.216G>T | gnomAD v4 |
6 | g.33446719C= | CA1620016981 | SYNGAP1,SYNGAP1-AS1 | c.3469C= (p.Gln1157=) c.3727C= (p.Gln1243=) c.3679C= (p.Gln1227=) n.9C= c.3550C= (p.Gln1184=) c.3682C= (p.Gln1228=) n.216G= | |
6 | g.33446719C>G | CA363637631 | SYNGAP1,SYNGAP1-AS1 | c.3469C>G (p.Gln1157Glu) c.3727C>G (p.Gln1243Glu) c.3679C>G (p.Gln1227Glu) n.9C>G c.3550C>G (p.Gln1184Glu) c.3682C>G (p.Gln1228Glu) n.216G>C | |
6 | g.33446719C>T | CA363637619 | SYNGAP1,SYNGAP1-AS1 | c.3469C>T (p.Gln1157Ter) c.3727C>T (p.Gln1243Ter) c.3679C>T (p.Gln1227Ter) n.9C>T c.3550C>T (p.Gln1184Ter) c.3682C>T (p.Gln1228Ter) n.216G>A | dbSNP |
6 | g.33446720A= | CA1620016986 | SYNGAP1,SYNGAP1-AS1 | c.3470A= (p.Gln1157=) c.3728A= (p.Gln1243=) c.3680A= (p.Gln1227=) n.10A= c.3551A= (p.Gln1184=) c.3683A= (p.Gln1228=) n.215T= | |
6 | g.33446720A>C | CA363637640 | SYNGAP1,SYNGAP1-AS1 | c.3470A>C (p.Gln1157Pro) c.3728A>C (p.Gln1243Pro) c.3680A>C (p.Gln1227Pro) n.10A>C c.3551A>C (p.Gln1184Pro) c.3683A>C (p.Gln1228Pro) n.215T>G | |
6 | g.33446720A>G | CA3759085 | SYNGAP1,SYNGAP1-AS1 | c.3470A>G (p.Gln1157Arg) c.3728A>G (p.Gln1243Arg) c.3680A>G (p.Gln1227Arg) n.10A>G c.3551A>G (p.Gln1184Arg) c.3683A>G (p.Gln1228Arg) n.215T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33446720A>T | CA363637646 | SYNGAP1,SYNGAP1-AS1 | c.3470A>T (p.Gln1157Leu) c.3728A>T (p.Gln1243Leu) c.3680A>T (p.Gln1227Leu) n.10A>T c.3551A>T (p.Gln1184Leu) c.3683A>T (p.Gln1228Leu) n.215T>A | |
6 | g.33446720_33446724delinsAGAGT | CA1620016988 | SYNGAP1,SYNGAP1-AS1 | c.3470_3474delinsAGAGT (p.Gln1157=) c.3728_3732delinsAGAGT (p.Gln1243=) c.3680_3684delinsAGAGT (p.Gln1227=) n.10_14delinsAGAGT c.3551_3555delinsAGAGT (p.Gln1184=) c.3683_3687delinsAGAGT (p.Gln1228=) n.211_215delinsACTCT | |
6 | g.33446721G>A | CA3759086 | SYNGAP1,SYNGAP1-AS1 | c.3471G>A (p.Gln1157=) c.3729G>A (p.Gln1243=) c.3681G>A (p.Gln1227=) n.11G>A c.3552G>A (p.Gln1184=) c.3684G>A (p.Gln1228=) n.214C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33446721G>C | CA363637649 | SYNGAP1,SYNGAP1-AS1 | c.3471G>C (p.Gln1157His) c.3729G>C (p.Gln1243His) c.3681G>C (p.Gln1227His) n.11G>C c.3552G>C (p.Gln1184His) c.3684G>C (p.Gln1228His) n.214C>G | gnomAD v4 |
6 | g.33446721G= | CA1620016997 | SYNGAP1,SYNGAP1-AS1 | c.3471G= (p.Gln1157=) c.3729G= (p.Gln1243=) c.3681G= (p.Gln1227=) n.11G= c.3552G= (p.Gln1184=) c.3684G= (p.Gln1228=) n.214C= | |
6 | g.33446721G>T | CA363637652 | SYNGAP1,SYNGAP1-AS1 | c.3471G>T (p.Gln1157His) c.3729G>T (p.Gln1243His) c.3681G>T (p.Gln1227His) n.11G>T c.3552G>T (p.Gln1184His) c.3684G>T (p.Gln1228His) n.214C>A | |
6 | g.33446724_33446727del | CA1139659355 | SYNGAP1,SYNGAP1-AS1 | c.3474_3477del (p.Ser1158ArgfsTer4) c.3732_3735del (p.Ser1244ArgfsTer4) c.3684_3687del (p.Ser1228ArgfsTer4) n.14_17del c.3555_3558del (p.Ser1185ArgfsTer4) c.3687_3690del (p.Ser1229ArgfsTer4) n.211_214del | ClinVar dbSNP |
6 | g.33446722A>C | CA363637657 | SYNGAP1,SYNGAP1-AS1 | c.3472A>C (p.Ser1158Arg) c.3730A>C (p.Ser1244Arg) c.3682A>C (p.Ser1228Arg) n.12A>C c.3553A>C (p.Ser1185Arg) c.3685A>C (p.Ser1229Arg) n.213T>G | |
6 | g.33446722A>G | CA363637659 | SYNGAP1,SYNGAP1-AS1 | c.3472A>G (p.Ser1158Gly) c.3730A>G (p.Ser1244Gly) c.3682A>G (p.Ser1228Gly) n.12A>G c.3553A>G (p.Ser1185Gly) c.3685A>G (p.Ser1229Gly) n.213T>C | |
6 | g.33446722A>T | CA363637661 | SYNGAP1,SYNGAP1-AS1 | c.3472A>T (p.Ser1158Cys) c.3730A>T (p.Ser1244Cys) c.3682A>T (p.Ser1228Cys) n.12A>T c.3553A>T (p.Ser1185Cys) c.3685A>T (p.Ser1229Cys) n.213T>A | |
6 | g.33446723G>A | CA363637664 | SYNGAP1,SYNGAP1-AS1 | c.3473G>A (p.Ser1158Asn) c.3731G>A (p.Ser1244Asn) c.3683G>A (p.Ser1228Asn) n.13G>A c.3554G>A (p.Ser1185Asn) c.3686G>A (p.Ser1229Asn) n.212C>T | ClinVar dbSNP |
6 | g.33446723G>C | CA363637665 | SYNGAP1,SYNGAP1-AS1 | c.3473G>C (p.Ser1158Thr) c.3731G>C (p.Ser1244Thr) c.3683G>C (p.Ser1228Thr) n.13G>C c.3554G>C (p.Ser1185Thr) c.3686G>C (p.Ser1229Thr) n.212C>G | |
6 | g.33446723G= | CA1620017003 | SYNGAP1,SYNGAP1-AS1 | c.3473G= (p.Ser1158=) c.3731G= (p.Ser1244=) c.3683G= (p.Ser1228=) n.13G= c.3554G= (p.Ser1185=) c.3686G= (p.Ser1229=) n.212C= | |
6 | g.33446723G>T | CA363637666 | SYNGAP1,SYNGAP1-AS1 | c.3473G>T (p.Ser1158Ile) c.3731G>T (p.Ser1244Ile) c.3683G>T (p.Ser1228Ile) n.13G>T c.3554G>T (p.Ser1185Ile) c.3686G>T (p.Ser1229Ile) n.212C>A | |
6 | g.33446724T>A | CA363637667 | SYNGAP1,SYNGAP1-AS1 | c.3474T>A (p.Ser1158Arg) c.3732T>A (p.Ser1244Arg) c.3684T>A (p.Ser1228Arg) n.14T>A c.3555T>A (p.Ser1185Arg) c.3687T>A (p.Ser1229Arg) n.211A>T | |
6 | g.33446724T>C | CA449839703 | SYNGAP1,SYNGAP1-AS1 | c.3474T>C (p.Ser1158=) c.3732T>C (p.Ser1244=) c.3684T>C (p.Ser1228=) n.14T>C c.3555T>C (p.Ser1185=) c.3687T>C (p.Ser1229=) n.211A>G | |
6 | g.33446724T>G | CA363637669 | SYNGAP1,SYNGAP1-AS1 | c.3474T>G (p.Ser1158Arg) c.3732T>G (p.Ser1244Arg) c.3684T>G (p.Ser1228Arg) n.14T>G c.3555T>G (p.Ser1185Arg) c.3687T>G (p.Ser1229Arg) n.211A>C | |
6 | g.33446725G>A | CA363637675 | SYNGAP1,SYNGAP1-AS1 | c.3475G>A (p.Glu1159Lys) c.3733G>A (p.Glu1245Lys) c.3685G>A (p.Glu1229Lys) n.15G>A c.3556G>A (p.Glu1186Lys) c.3688G>A (p.Glu1230Lys) n.210C>T | |
6 | g.33446725G>C | CA363637677 | SYNGAP1,SYNGAP1-AS1 | c.3475G>C (p.Glu1159Gln) c.3733G>C (p.Glu1245Gln) c.3685G>C (p.Glu1229Gln) n.15G>C c.3556G>C (p.Glu1186Gln) c.3688G>C (p.Glu1230Gln) n.210C>G | |
6 | g.33446725G= | CA1620017009 | SYNGAP1,SYNGAP1-AS1 | c.3475G= (p.Glu1159=) c.3733G= (p.Glu1245=) c.3685G= (p.Glu1229=) n.15G= c.3556G= (p.Glu1186=) c.3688G= (p.Glu1230=) n.210C= | |
6 | g.33446725G>T | CA363637672 | SYNGAP1,SYNGAP1-AS1 | c.3475G>T (p.Glu1159Ter) c.3733G>T (p.Glu1245Ter) c.3685G>T (p.Glu1229Ter) n.15G>T c.3556G>T (p.Glu1186Ter) c.3688G>T (p.Glu1230Ter) n.210C>A | dbSNP |
6 | g.33446726A>C | CA363637691 | SYNGAP1,SYNGAP1-AS1 | c.3476A>C (p.Glu1159Ala) c.3734A>C (p.Glu1245Ala) c.3686A>C (p.Glu1229Ala) n.16A>C c.3557A>C (p.Glu1186Ala) c.3689A>C (p.Glu1230Ala) n.209T>G | |
6 | g.33446726A>G | CA363637693 | SYNGAP1,SYNGAP1-AS1 | c.3476A>G (p.Glu1159Gly) c.3734A>G (p.Glu1245Gly) c.3686A>G (p.Glu1229Gly) n.16A>G c.3557A>G (p.Glu1186Gly) c.3689A>G (p.Glu1230Gly) n.209T>C | |
6 | g.33446726A>T | CA363637697 | SYNGAP1,SYNGAP1-AS1 | c.3476A>T (p.Glu1159Val) c.3734A>T (p.Glu1245Val) c.3686A>T (p.Glu1229Val) n.16A>T c.3557A>T (p.Glu1186Val) c.3689A>T (p.Glu1230Val) n.209T>A | |
6 | g.33446727G>A | CA449839704 | SYNGAP1,SYNGAP1-AS1 | c.3477G>A (p.Glu1159=) c.3735G>A (p.Glu1245=) c.3687G>A (p.Glu1229=) n.17G>A c.3558G>A (p.Glu1186=) c.3690G>A (p.Glu1230=) n.208C>T | |
6 | g.33446727G>C | CA363637701 | SYNGAP1,SYNGAP1-AS1 | c.3477G>C (p.Glu1159Asp) c.3735G>C (p.Glu1245Asp) c.3687G>C (p.Glu1229Asp) n.17G>C c.3558G>C (p.Glu1186Asp) c.3690G>C (p.Glu1230Asp) n.208C>G | |
6 | g.33446727G>T | CA363637702 | SYNGAP1,SYNGAP1-AS1 | c.3477G>T (p.Glu1159Asp) c.3735G>T (p.Glu1245Asp) c.3687G>T (p.Glu1229Asp) n.17G>T c.3558G>T (p.Glu1186Asp) c.3690G>T (p.Glu1230Asp) n.208C>A | |
6 | g.33446728A= | CA1620017011 | SYNGAP1,SYNGAP1-AS1 | c.3478A= (p.Lys1160=) c.3736A= (p.Lys1246=) c.3688A= (p.Lys1230=) n.18A= c.3559A= (p.Lys1187=) c.3691A= (p.Lys1231=) n.207T= | |
6 | g.33446728A>C | CA363637703 | SYNGAP1,SYNGAP1-AS1 | c.3478A>C (p.Lys1160Gln) c.3736A>C (p.Lys1246Gln) c.3688A>C (p.Lys1230Gln) n.18A>C c.3559A>C (p.Lys1187Gln) c.3691A>C (p.Lys1231Gln) n.207T>G | |
6 | g.33446728A>G | CA363637705 | SYNGAP1,SYNGAP1-AS1 | c.3478A>G (p.Lys1160Glu) c.3736A>G (p.Lys1246Glu) c.3688A>G (p.Lys1230Glu) n.18A>G c.3559A>G (p.Lys1187Glu) c.3691A>G (p.Lys1231Glu) n.207T>C | |
6 | g.33446728A>T | CA363637707 | SYNGAP1,SYNGAP1-AS1 | c.3478A>T (p.Lys1160Ter) c.3736A>T (p.Lys1246Ter) c.3688A>T (p.Lys1230Ter) n.18A>T c.3559A>T (p.Lys1187Ter) c.3691A>T (p.Lys1231Ter) n.207T>A | dbSNP |
6 | g.33446729A>C | CA363637708 | SYNGAP1,SYNGAP1-AS1 | c.3479A>C (p.Lys1160Thr) c.3737A>C (p.Lys1246Thr) c.3689A>C (p.Lys1230Thr) n.19A>C c.3560A>C (p.Lys1187Thr) c.3692A>C (p.Lys1231Thr) n.206T>G | |
6 | g.33446729A>G | CA363637711 | SYNGAP1,SYNGAP1-AS1 | c.3479A>G (p.Lys1160Arg) c.3737A>G (p.Lys1246Arg) c.3689A>G (p.Lys1230Arg) n.19A>G c.3560A>G (p.Lys1187Arg) c.3692A>G (p.Lys1231Arg) n.206T>C | gnomAD v4 |
6 | g.33446729A>T | CA363637713 | SYNGAP1,SYNGAP1-AS1 | c.3479A>T (p.Lys1160Met) c.3737A>T (p.Lys1246Met) c.3689A>T (p.Lys1230Met) n.19A>T c.3560A>T (p.Lys1187Met) c.3692A>T (p.Lys1231Met) n.206T>A | |
6 | g.33446730G>A | CA449839705 | SYNGAP1,SYNGAP1-AS1 | c.3480G>A (p.Lys1160=) c.3738G>A (p.Lys1246=) c.3690G>A (p.Lys1230=) n.20G>A c.3561G>A (p.Lys1187=) c.3693G>A (p.Lys1231=) n.205C>T | ClinVar dbSNP |
6 | g.33446730G>C | CA363637716 | SYNGAP1,SYNGAP1-AS1 | c.3480G>C (p.Lys1160Asn) c.3738G>C (p.Lys1246Asn) c.3690G>C (p.Lys1230Asn) n.20G>C c.3561G>C (p.Lys1187Asn) c.3693G>C (p.Lys1231Asn) n.205C>G | |
6 | g.33446730G= | CA1620017015 | SYNGAP1,SYNGAP1-AS1 | c.3480G= (p.Lys1160=) c.3738G= (p.Lys1246=) c.3690G= (p.Lys1230=) n.20G= c.3561G= (p.Lys1187=) c.3693G= (p.Lys1231=) n.205C= | |
6 | g.33446730G>T | CA363637718 | SYNGAP1,SYNGAP1-AS1 | c.3480G>T (p.Lys1160Asn) c.3738G>T (p.Lys1246Asn) c.3690G>T (p.Lys1230Asn) n.20G>T c.3561G>T (p.Lys1187Asn) c.3693G>T (p.Lys1231Asn) n.205C>A | |
6 | g.33446731A>C | CA449839706 | SYNGAP1,SYNGAP1-AS1 | c.3481A>C (p.Arg1161=) c.3739A>C (p.Arg1247=) c.3691A>C (p.Arg1231=) n.21A>C c.3562A>C (p.Arg1188=) c.3694A>C (p.Arg1232=) n.204T>G | |
6 | g.33446731A>G | CA363637722 | SYNGAP1,SYNGAP1-AS1 | c.3481A>G (p.Arg1161Gly) c.3739A>G (p.Arg1247Gly) c.3691A>G (p.Arg1231Gly) n.21A>G c.3562A>G (p.Arg1188Gly) c.3694A>G (p.Arg1232Gly) n.204T>C | |
6 | g.33446731A>T | CA363637720 | SYNGAP1,SYNGAP1-AS1 | c.3481A>T (p.Arg1161Trp) c.3739A>T (p.Arg1247Trp) c.3691A>T (p.Arg1231Trp) n.21A>T c.3562A>T (p.Arg1188Trp) c.3694A>T (p.Arg1232Trp) n.204T>A | |
6 | g.33446732G>A | CA363637727 | SYNGAP1,SYNGAP1-AS1 | c.3482G>A (p.Arg1161Lys) c.3740G>A (p.Arg1247Lys) c.3692G>A (p.Arg1231Lys) n.22G>A c.3563G>A (p.Arg1188Lys) c.3695G>A (p.Arg1232Lys) n.203C>T | gnomAD v4 |
6 | g.33446732G>C | CA363637730 | SYNGAP1,SYNGAP1-AS1 | c.3482G>C (p.Arg1161Thr) c.3740G>C (p.Arg1247Thr) c.3692G>C (p.Arg1231Thr) n.22G>C c.3563G>C (p.Arg1188Thr) c.3695G>C (p.Arg1232Thr) n.203C>G | |
6 | g.33446732G>T | CA363637733 | SYNGAP1,SYNGAP1-AS1 | c.3482G>T (p.Arg1161Met) c.3740G>T (p.Arg1247Met) c.3692G>T (p.Arg1231Met) n.22G>T c.3563G>T (p.Arg1188Met) c.3695G>T (p.Arg1232Met) n.203C>A | |
6 | g.33446733G>A | CA449839707 | SYNGAP1,SYNGAP1-AS1 | c.3483G>A (p.Arg1161=) c.3741G>A (p.Arg1247=) c.3693G>A (p.Arg1231=) n.23G>A c.3564G>A (p.Arg1188=) c.3696G>A (p.Arg1232=) n.202C>T | gnomAD v4 |
6 | g.33446733G>C | CA363637738 | SYNGAP1,SYNGAP1-AS1 | c.3483G>C (p.Arg1161Ser) c.3741G>C (p.Arg1247Ser) c.3693G>C (p.Arg1231Ser) n.23G>C c.3564G>C (p.Arg1188Ser) c.3696G>C (p.Arg1232Ser) n.202C>G | |
6 | g.33446733G>T | CA363637741 | SYNGAP1,SYNGAP1-AS1 | c.3483G>T (p.Arg1161Ser) c.3741G>T (p.Arg1247Ser) c.3693G>T (p.Arg1231Ser) n.23G>T c.3564G>T (p.Arg1188Ser) c.3696G>T (p.Arg1232Ser) n.202C>A | |
6 | g.33446734C>A | CA363637744 | SYNGAP1,SYNGAP1-AS1 | c.3484C>A (p.Leu1162Ile) c.3742C>A (p.Leu1248Ile) c.3694C>A (p.Leu1232Ile) n.24C>A c.3565C>A (p.Leu1189Ile) c.3697C>A (p.Leu1233Ile) n.201G>T | |
6 | g.33446734C>G | CA363637747 | SYNGAP1,SYNGAP1-AS1 | c.3484C>G (p.Leu1162Val) c.3742C>G (p.Leu1248Val) c.3694C>G (p.Leu1232Val) n.24C>G c.3565C>G (p.Leu1189Val) c.3697C>G (p.Leu1233Val) n.201G>C | |
6 | g.33446734C>T | CA449839708 | SYNGAP1,SYNGAP1-AS1 | c.3484C>T (p.Leu1162=) c.3742C>T (p.Leu1248=) c.3694C>T (p.Leu1232=) n.24C>T c.3565C>T (p.Leu1189=) c.3697C>T (p.Leu1233=) n.201G>A | |
6 | g.33446735T>A | CA363637751 | SYNGAP1,SYNGAP1-AS1 | c.3485T>A (p.Leu1162Gln) c.3743T>A (p.Leu1248Gln) c.3695T>A (p.Leu1232Gln) n.25T>A c.3566T>A (p.Leu1189Gln) c.3698T>A (p.Leu1233Gln) n.200A>T | |
6 | g.33446735T>C | CA363637754 | SYNGAP1,SYNGAP1-AS1 | c.3485T>C (p.Leu1162Pro) c.3743T>C (p.Leu1248Pro) c.3695T>C (p.Leu1232Pro) n.25T>C c.3566T>C (p.Leu1189Pro) c.3698T>C (p.Leu1233Pro) n.200A>G | |
6 | g.33446735T>G | CA363637758 | SYNGAP1,SYNGAP1-AS1 | c.3485T>G (p.Leu1162Arg) c.3743T>G (p.Leu1248Arg) c.3695T>G (p.Leu1232Arg) n.25T>G c.3566T>G (p.Leu1189Arg) c.3698T>G (p.Leu1233Arg) n.200A>C | |
6 | g.33446736A= | CA1620017017 | SYNGAP1,SYNGAP1-AS1 | c.3486A= (p.Leu1162=) c.3744A= (p.Leu1248=) c.3696A= (p.Leu1232=) n.26A= c.3567A= (p.Leu1189=) c.3699A= (p.Leu1233=) n.199T= | |
6 | g.33446736A>C | CA449839709 | SYNGAP1,SYNGAP1-AS1 | c.3486A>C (p.Leu1162=) c.3744A>C (p.Leu1248=) c.3696A>C (p.Leu1232=) n.26A>C c.3567A>C (p.Leu1189=) c.3699A>C (p.Leu1233=) n.199T>G | |
6 | g.33446736A>G | CA449839710 | SYNGAP1,SYNGAP1-AS1 | c.3486A>G (p.Leu1162=) c.3744A>G (p.Leu1248=) c.3696A>G (p.Leu1232=) n.26A>G c.3567A>G (p.Leu1189=) c.3699A>G (p.Leu1233=) n.199T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33446736A>T | CA449839711 | SYNGAP1,SYNGAP1-AS1 | c.3486A>T (p.Leu1162=) c.3744A>T (p.Leu1248=) c.3696A>T (p.Leu1232=) n.26A>T c.3567A>T (p.Leu1189=) c.3699A>T (p.Leu1233=) n.199T>A | gnomAD v4 |
6 | g.33446737A>C | CA449839712 | SYNGAP1,SYNGAP1-AS1 | c.3487A>C (p.Arg1163=) c.3745A>C (p.Arg1249=) c.3697A>C (p.Arg1233=) n.27A>C c.3568A>C (p.Arg1190=) c.3700A>C (p.Arg1234=) n.198T>G | |
6 | g.33446737A>G | CA363637761 | SYNGAP1,SYNGAP1-AS1 | c.3487A>G (p.Arg1163Gly) c.3745A>G (p.Arg1249Gly) c.3697A>G (p.Arg1233Gly) n.27A>G c.3568A>G (p.Arg1190Gly) c.3700A>G (p.Arg1234Gly) n.198T>C | |
6 | g.33446737A>T | CA363637765 | SYNGAP1,SYNGAP1-AS1 | c.3487A>T (p.Arg1163Trp) c.3745A>T (p.Arg1249Trp) c.3697A>T (p.Arg1233Trp) n.27A>T c.3568A>T (p.Arg1190Trp) c.3700A>T (p.Arg1234Trp) n.198T>A | |
6 | g.33446738G>A | CA363637770 | SYNGAP1,SYNGAP1-AS1 | c.3488G>A (p.Arg1163Lys) c.3746G>A (p.Arg1249Lys) c.3698G>A (p.Arg1233Lys) n.28G>A c.3569G>A (p.Arg1190Lys) c.3701G>A (p.Arg1234Lys) n.197C>T | |
6 | g.33446738G>C | CA363637776 | SYNGAP1,SYNGAP1-AS1 | c.3488G>C (p.Arg1163Thr) c.3746G>C (p.Arg1249Thr) c.3698G>C (p.Arg1233Thr) n.28G>C c.3569G>C (p.Arg1190Thr) c.3701G>C (p.Arg1234Thr) n.197C>G | |
6 | g.33446738G>T | CA363637774 | SYNGAP1,SYNGAP1-AS1 | c.3488G>T (p.Arg1163Met) c.3746G>T (p.Arg1249Met) c.3698G>T (p.Arg1233Met) n.28G>T c.3569G>T (p.Arg1190Met) c.3701G>T (p.Arg1234Met) n.197C>A |